SNP Links for Protein (Select 209862772) - SNP

Links from Protein

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Select item 14905392461.

rs1490539246 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGG>- [Show Flanks]
Chromosome:: 1:179108864 (GRCh38)
1:179077999 (GRCh37)
Canonical SPDI:: NC_000001.11:179108861:GGAAGG:GG
Gene:: ABL2 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.179108864_179108867del, NC_000001.10:g.179077999_179078002del, NG_028242.1:g.125820_125823del, NM_005158.5:c.2357_2360del, NM_005158.4:c.2357_2360del, NM_007314.4:c.2402_2405del, NM_007314.3:c.2402_2405del, NM_001136000.3:c.2048_2051del, NM_001136000.2:c.2048_2051del, NM_001168236.2:c.2339_2342del, NM_001168236.1:c.2339_2342del, NM_001168237.2:c.2093_2096del, NM_001168237.1:c.2093_2096del, NM_001168238.2:c.2030_2033del, NM_001168238.1:c.2030_2033del, NM_001168239.2:c.1985_1988del, NM_001168239.1:c.1985_1988del, XM_005245088.3:c.2294_2297del, XM_005245088.2:c.2294_2297del, XM_005245088.1:c.2294_2297del, XM_017001035.2:c.2402_2405del, XM_017001035.1:c.2402_2405del, NM_001100108.1:c.2357_2360del, NP_005149.4:p.Leu786fs, NP_009298.1:p.Leu801fs, NP_001129472.1:p.Leu683fs, NP_001161708.1:p.Leu780fs, NP_001161709.1:p.Leu698fs, NP_001161710.1:p.Leu677fs, NP_001161711.1:p.Leu662fs, XP_005245145.1:p.Leu765fs, XP_016856524.1:p.Leu801fs

Select item 14905189702.

rs1490518970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:179110329 (GRCh38)
1:179079464 (GRCh37)
Canonical SPDI:: NC_000001.11:179110328:T:C
Gene:: ABL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.179110329T>C, NC_000001.10:g.179079464T>C, NG_028242.1:g.124356A>G, NM_005158.5:c.1733A>G, NM_005158.4:c.1733A>G, NM_007314.4:c.1778A>G, NM_007314.3:c.1778A>G, NM_001136000.3:c.1733A>G, NM_001136000.2:c.1733A>G, NM_001168236.2:c.1715A>G, NM_001168236.1:c.1715A>G, NM_001168237.2:c.1778A>G, NM_001168237.1:c.1778A>G, NM_001168238.2:c.1715A>G, NM_001168238.1:c.1715A>G, NM_001168239.2:c.1670A>G, NM_001168239.1:c.1670A>G, XM_005245088.3:c.1670A>G, XM_005245088.2:c.1670A>G, XM_005245088.1:c.1670A>G, XM_017001035.2:c.1778A>G, XM_017001035.1:c.1778A>G, NM_001100108.1:c.1733A>G, NP_005149.4:p.Glu578Gly, NP_009298.1:p.Glu593Gly, NP_001129472.1:p.Glu578Gly, NP_001161708.1:p.Glu572Gly, NP_001161709.1:p.Glu593Gly, NP_001161710.1:p.Glu572Gly, NP_001161711.1:p.Glu557Gly, XP_005245145.1:p.Glu557Gly, XP_016856524.1:p.Glu593Gly

Select item 14890911803.

rs1489091180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:179108610 (GRCh38)
1:179077745 (GRCh37)
Canonical SPDI:: NC_000001.11:179108609:G:A,NC_000001.11:179108609:G:C,NC_000001.11:179108609:G:T
Gene:: ABL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.002477/70 (TOMMO)
HGVS:: NC_000001.11:g.179108610G>A, NC_000001.11:g.179108610G>C, NC_000001.11:g.179108610G>T, NC_000001.10:g.179077745G>A, NC_000001.10:g.179077745G>C, NC_000001.10:g.179077745G>T, NG_028242.1:g.126075C>T, NG_028242.1:g.126075C>G, NG_028242.1:g.126075C>A, NM_005158.5:c.2612C>T, NM_005158.5:c.2612C>G, NM_005158.5:c.2612C>A, NM_005158.4:c.2612C>T, NM_005158.4:c.2612C>G, NM_005158.4:c.2612C>A, NM_007314.4:c.2657C>T, NM_007314.4:c.2657C>G, NM_007314.4:c.2657C>A, NM_007314.3:c.2657C>T, NM_007314.3:c.2657C>G, NM_007314.3:c.2657C>A, NM_001136000.3:c.2303C>T, NM_001136000.3:c.2303C>G, NM_001136000.3:c.2303C>A, NM_001136000.2:c.2303C>T, NM_001136000.2:c.2303C>G, NM_001136000.2:c.2303C>A, NM_001168236.2:c.2594C>T, NM_001168236.2:c.2594C>G, NM_001168236.2:c.2594C>A, NM_001168236.1:c.2594C>T, NM_001168236.1:c.2594C>G, NM_001168236.1:c.2594C>A, NM_001168237.2:c.2348C>T, NM_001168237.2:c.2348C>G, NM_001168237.2:c.2348C>A, NM_001168237.1:c.2348C>T, NM_001168237.1:c.2348C>G, NM_001168237.1:c.2348C>A, NM_001168238.2:c.2285C>T, NM_001168238.2:c.2285C>G, NM_001168238.2:c.2285C>A, NM_001168238.1:c.2285C>T, NM_001168238.1:c.2285C>G, NM_001168238.1:c.2285C>A, NM_001168239.2:c.2240C>T, NM_001168239.2:c.2240C>G, NM_001168239.2:c.2240C>A, NM_001168239.1:c.2240C>T, NM_001168239.1:c.2240C>G, NM_001168239.1:c.2240C>A, XM_005245088.3:c.2549C>T, XM_005245088.3:c.2549C>G, XM_005245088.3:c.2549C>A, XM_005245088.2:c.2549C>T, XM_005245088.2:c.2549C>G, XM_005245088.2:c.2549C>A, XM_005245088.1:c.2549C>T, XM_005245088.1:c.2549C>G, XM_005245088.1:c.2549C>A, XM_017001035.2:c.2657C>T, XM_017001035.2:c.2657C>G, XM_017001035.2:c.2657C>A, XM_017001035.1:c.2657C>T, XM_017001035.1:c.2657C>G, XM_017001035.1:c.2657C>A, NM_001100108.1:c.2612C>T, NM_001100108.1:c.2612C>G, NM_001100108.1:c.2612C>A, NP_005149.4:p.Ala871Val, NP_005149.4:p.Ala871Gly, NP_005149.4:p.Ala871Asp, NP_009298.1:p.Ala886Val, NP_009298.1:p.Ala886Gly, NP_009298.1:p.Ala886Asp, NP_001129472.1:p.Ala768Val, NP_001129472.1:p.Ala768Gly, NP_001129472.1:p.Ala768Asp, NP_001161708.1:p.Ala865Val, NP_001161708.1:p.Ala865Gly, NP_001161708.1:p.Ala865Asp, NP_001161709.1:p.Ala783Val, NP_001161709.1:p.Ala783Gly, NP_001161709.1:p.Ala783Asp, NP_001161710.1:p.Ala762Val, NP_001161710.1:p.Ala762Gly, NP_001161710.1:p.Ala762Asp, NP_001161711.1:p.Ala747Val, NP_001161711.1:p.Ala747Gly, NP_001161711.1:p.Ala747Asp, XP_005245145.1:p.Ala850Val, XP_005245145.1:p.Ala850Gly, XP_005245145.1:p.Ala850Asp, XP_016856524.1:p.Ala886Val, XP_016856524.1:p.Ala886Gly, XP_016856524.1:p.Ala886Asp

Select item 14881387314.

rs1488138731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:179108524 (GRCh38)
1:179077659 (GRCh37)
Canonical SPDI:: NC_000001.11:179108523:A:G
Gene:: ABL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.179108524A>G, NC_000001.10:g.179077659A>G, NG_028242.1:g.126161T>C, NM_005158.5:c.2698T>C, NM_005158.4:c.2698T>C, NM_007314.4:c.2743T>C, NM_007314.3:c.2743T>C, NM_001136000.3:c.2389T>C, NM_001136000.2:c.2389T>C, NM_001168236.2:c.2680T>C, NM_001168236.1:c.2680T>C, NM_001168237.2:c.2434T>C, NM_001168237.1:c.2434T>C, NM_001168238.2:c.2371T>C, NM_001168238.1:c.2371T>C, NM_001168239.2:c.2326T>C, NM_001168239.1:c.2326T>C, XM_005245088.3:c.2635T>C, XM_005245088.2:c.2635T>C, XM_005245088.1:c.2635T>C, XM_017001035.2:c.2743T>C, XM_017001035.1:c.2743T>C, NM_001100108.1:c.2698T>C, NP_005149.4:p.Ser900Pro, NP_009298.1:p.Ser915Pro, NP_001129472.1:p.Ser797Pro, NP_001161708.1:p.Ser894Pro, NP_001161709.1:p.Ser812Pro, NP_001161710.1:p.Ser791Pro, NP_001161711.1:p.Ser776Pro, XP_005245145.1:p.Ser879Pro, XP_016856524.1:p.Ser915Pro

Select item 14869943205.

rs1486994320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:179109220 (GRCh38)
1:179078355 (GRCh37)
Canonical SPDI:: NC_000001.11:179109219:A:G,NC_000001.11:179109219:A:T
Gene:: ABL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.179109220A>G, NC_000001.11:g.179109220A>T, NC_000001.10:g.179078355A>G, NC_000001.10:g.179078355A>T, NG_028242.1:g.125465T>C, NG_028242.1:g.125465T>A, NM_005158.5:c.2002T>C, NM_005158.5:c.2002T>A, NM_005158.4:c.2002T>C, NM_005158.4:c.2002T>A, NM_007314.4:c.2047T>C, NM_007314.4:c.2047T>A, NM_007314.3:c.2047T>C, NM_007314.3:c.2047T>A, NM_001136000.3:c.2002T>C, NM_001136000.3:c.2002T>A, NM_001136000.2:c.2002T>C, NM_001136000.2:c.2002T>A, NM_001168236.2:c.1984T>C, NM_001168236.2:c.1984T>A, NM_001168236.1:c.1984T>C, NM_001168236.1:c.1984T>A, NM_001168237.2:c.2047T>C, NM_001168237.2:c.2047T>A, NM_001168237.1:c.2047T>C, NM_001168237.1:c.2047T>A, NM_001168238.2:c.1984T>C, NM_001168238.2:c.1984T>A, NM_001168238.1:c.1984T>C, NM_001168238.1:c.1984T>A, NM_001168239.2:c.1939T>C, NM_001168239.2:c.1939T>A, NM_001168239.1:c.1939T>C, NM_001168239.1:c.1939T>A, XM_005245088.3:c.1939T>C, XM_005245088.3:c.1939T>A, XM_005245088.2:c.1939T>C, XM_005245088.2:c.1939T>A, XM_005245088.1:c.1939T>C, XM_005245088.1:c.1939T>A, XM_017001035.2:c.2047T>C, XM_017001035.2:c.2047T>A, XM_017001035.1:c.2047T>C, XM_017001035.1:c.2047T>A, NM_001100108.1:c.2002T>C, NM_001100108.1:c.2002T>A, NP_005149.4:p.Tyr668His, NP_005149.4:p.Tyr668Asn, NP_009298.1:p.Tyr683His, NP_009298.1:p.Tyr683Asn, NP_001129472.1:p.Tyr668His, NP_001129472.1:p.Tyr668Asn, NP_001161708.1:p.Tyr662His, NP_001161708.1:p.Tyr662Asn, NP_001161709.1:p.Tyr683His, NP_001161709.1:p.Tyr683Asn, NP_001161710.1:p.Tyr662His, NP_001161710.1:p.Tyr662Asn, NP_001161711.1:p.Tyr647His, NP_001161711.1:p.Tyr647Asn, XP_005245145.1:p.Tyr647His, XP_005245145.1:p.Tyr647Asn, XP_016856524.1:p.Tyr683His, XP_016856524.1:p.Tyr683Asn

Select item 14866389066.

rs1486638906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:179109287 (GRCh38)
1:179078422 (GRCh37)
Canonical SPDI:: NC_000001.11:179109286:T:C
Gene:: ABL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.179109287T>C, NC_000001.10:g.179078422T>C, NG_028242.1:g.125398A>G, NM_005158.5:c.1935A>G, NM_005158.4:c.1935A>G, NM_007314.4:c.1980A>G, NM_007314.3:c.1980A>G, NM_001136000.3:c.1935A>G, NM_001136000.2:c.1935A>G, NM_001168236.2:c.1917A>G, NM_001168236.1:c.1917A>G, NM_001168237.2:c.1980A>G, NM_001168237.1:c.1980A>G, NM_001168238.2:c.1917A>G, NM_001168238.1:c.1917A>G, NM_001168239.2:c.1872A>G, NM_001168239.1:c.1872A>G, XM_005245088.3:c.1872A>G, XM_005245088.2:c.1872A>G, XM_005245088.1:c.1872A>G, XM_017001035.2:c.1980A>G, XM_017001035.1:c.1980A>G, NM_001100108.1:c.1935A>G

Select item 14840537937.

rs1484053793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:179115004 (GRCh38)
1:179084139 (GRCh37)
Canonical SPDI:: NC_000001.11:179115003:C:T
Gene:: ABL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.179115004C>T, NC_000001.10:g.179084139C>T, NG_028242.1:g.119681G>A, NM_005158.5:c.1390G>A, NM_005158.4:c.1390G>A, NM_007314.4:c.1435G>A, NM_007314.3:c.1435G>A, NM_001136000.3:c.1390G>A, NM_001136000.2:c.1390G>A, NM_001168236.2:c.1372G>A, NM_001168236.1:c.1372G>A, NM_001168237.2:c.1435G>A, NM_001168237.1:c.1435G>A, NM_001168238.2:c.1372G>A, NM_001168238.1:c.1372G>A, NM_001168239.2:c.1327G>A, NM_001168239.1:c.1327G>A, NM_001136001.2:c.1372G>A, NM_001136001.1:c.1372G>A, XR_921764.4:n.1715G>A, XR_921764.3:n.1719G>A, XR_921764.2:n.1700G>A, XR_921764.1:n.1691G>A, XM_005245088.3:c.1327G>A, XM_005245088.2:c.1327G>A, XM_005245088.1:c.1327G>A, XM_017001035.2:c.1435G>A, XM_017001035.1:c.1435G>A, XR_921765.2:n.1652G>A, XR_921765.1:n.1668G>A, NM_001100108.1:c.1390G>A, XR_007058798.1:n.1715G>A, NP_005149.4:p.Ala464Thr, NP_009298.1:p.Ala479Thr, NP_001129472.1:p.Ala464Thr, NP_001161708.1:p.Ala458Thr, NP_001161709.1:p.Ala479Thr, NP_001161710.1:p.Ala458Thr, NP_001161711.1:p.Ala443Thr, NP_001129473.1:p.Ala458Thr, XP_005245145.1:p.Ala443Thr, XP_016856524.1:p.Ala479Thr

Select item 14833939718.

rs1483393971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:179107996 (GRCh38)
1:179077131 (GRCh37)
Canonical SPDI:: NC_000001.11:179107995:C:G,NC_000001.11:179107995:C:T
Gene:: ABL2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.179107996C>G, NC_000001.11:g.179107996C>T, NC_000001.10:g.179077131C>G, NC_000001.10:g.179077131C>T, NG_028242.1:g.126689G>C, NG_028242.1:g.126689G>A, NM_005158.5:c.3226G>C, NM_005158.5:c.3226G>A, NM_005158.4:c.3226G>C, NM_005158.4:c.3226G>A, NM_007314.4:c.3271G>C, NM_007314.4:c.3271G>A, NM_007314.3:c.3271G>C, NM_007314.3:c.3271G>A, NM_001136000.3:c.2917G>C, NM_001136000.3:c.2917G>A, NM_001136000.2:c.2917G>C, NM_001136000.2:c.2917G>A, NM_001168236.2:c.3208G>C, NM_001168236.2:c.3208G>A, NM_001168236.1:c.3208G>C, NM_001168236.1:c.3208G>A, NM_001168237.2:c.2962G>C, NM_001168237.2:c.2962G>A, NM_001168237.1:c.2962G>C, NM_001168237.1:c.2962G>A, NM_001168238.2:c.2899G>C, NM_001168238.2:c.2899G>A, NM_001168238.1:c.2899G>C, NM_001168238.1:c.2899G>A, NM_001168239.2:c.2854G>C, NM_001168239.2:c.2854G>A, NM_001168239.1:c.2854G>C, NM_001168239.1:c.2854G>A, XM_005245088.3:c.3163G>C, XM_005245088.3:c.3163G>A, XM_005245088.2:c.3163G>C, XM_005245088.2:c.3163G>A, XM_005245088.1:c.3163G>C, XM_005245088.1:c.3163G>A, XM_017001035.2:c.3271G>C, XM_017001035.2:c.3271G>A, XM_017001035.1:c.3271G>C, XM_017001035.1:c.3271G>A, NM_001100108.1:c.3226G>C, NM_001100108.1:c.3226G>A, NP_005149.4:p.Glu1076Gln, NP_005149.4:p.Glu1076Lys, NP_009298.1:p.Glu1091Gln, NP_009298.1:p.Glu1091Lys, NP_001129472.1:p.Glu973Gln, NP_001129472.1:p.Glu973Lys, NP_001161708.1:p.Glu1070Gln, NP_001161708.1:p.Glu1070Lys, NP_001161709.1:p.Glu988Gln, NP_001161709.1:p.Glu988Lys, NP_001161710.1:p.Glu967Gln, NP_001161710.1:p.Glu967Lys, NP_001161711.1:p.Glu952Gln, NP_001161711.1:p.Glu952Lys, XP_005245145.1:p.Glu1055Gln, XP_005245145.1:p.Glu1055Lys, XP_016856524.1:p.Glu1091Gln, XP_016856524.1:p.Glu1091Lys

Select item 14809078619.

rs1480907861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:179108037 (GRCh38)
1:179077172 (GRCh37)
Canonical SPDI:: NC_000001.11:179108036:T:C
Gene:: ABL2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.179108037T>C, NC_000001.10:g.179077172T>C, NG_028242.1:g.126648A>G, NM_005158.5:c.3185A>G, NM_005158.4:c.3185A>G, NM_007314.4:c.3230A>G, NM_007314.3:c.3230A>G, NM_001136000.3:c.2876A>G, NM_001136000.2:c.2876A>G, NM_001168236.2:c.3167A>G, NM_001168236.1:c.3167A>G, NM_001168237.2:c.2921A>G, NM_001168237.1:c.2921A>G, NM_001168238.2:c.2858A>G, NM_001168238.1:c.2858A>G, NM_001168239.2:c.2813A>G, NM_001168239.1:c.2813A>G, XM_005245088.3:c.3122A>G, XM_005245088.2:c.3122A>G, XM_005245088.1:c.3122A>G, XM_017001035.2:c.3230A>G, XM_017001035.1:c.3230A>G, NM_001100108.1:c.3185A>G, NP_005149.4:p.Glu1062Gly, NP_009298.1:p.Glu1077Gly, NP_001129472.1:p.Glu959Gly, NP_001161708.1:p.Glu1056Gly, NP_001161709.1:p.Glu974Gly, NP_001161710.1:p.Glu953Gly, NP_001161711.1:p.Glu938Gly, XP_005245145.1:p.Glu1041Gly, XP_016856524.1:p.Glu1077Gly

Select item 147859176910.

rs1478591769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:179108547 (GRCh38)
1:179077682 (GRCh37)
Canonical SPDI:: NC_000001.11:179108546:T:C
Gene:: ABL2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.179108547T>C, NC_000001.10:g.179077682T>C, NG_028242.1:g.126138A>G, NM_005158.5:c.2675A>G, NM_005158.4:c.2675A>G, NM_007314.4:c.2720A>G, NM_007314.3:c.2720A>G, NM_001136000.3:c.2366A>G, NM_001136000.2:c.2366A>G, NM_001168236.2:c.2657A>G, NM_001168236.1:c.2657A>G, NM_001168237.2:c.2411A>G, NM_001168237.1:c.2411A>G, NM_001168238.2:c.2348A>G, NM_001168238.1:c.2348A>G, NM_001168239.2:c.2303A>G, NM_001168239.1:c.2303A>G, XM_005245088.3:c.2612A>G, XM_005245088.2:c.2612A>G, XM_005245088.1:c.2612A>G, XM_017001035.2:c.2720A>G, XM_017001035.1:c.2720A>G, NM_001100108.1:c.2675A>G, NP_005149.4:p.Asp892Gly, NP_009298.1:p.Asp907Gly, NP_001129472.1:p.Asp789Gly, NP_001161708.1:p.Asp886Gly, NP_001161709.1:p.Asp804Gly, NP_001161710.1:p.Asp783Gly, NP_001161711.1:p.Asp768Gly, XP_005245145.1:p.Asp871Gly, XP_016856524.1:p.Asp907Gly

Select item 147715059611.

rs1477150596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:179142937 (GRCh38)
1:179112072 (GRCh37)
Canonical SPDI:: NC_000001.11:179142936:T:C
Gene:: ABL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.179142937T>C, NC_000001.10:g.179112072T>C, NG_028242.1:g.91748A>G, NM_005158.5:c.108A>G, NM_005158.4:c.108A>G, NM_001136000.3:c.108A>G, NM_001136000.2:c.108A>G, NM_001168239.2:c.108A>G, NM_001168239.1:c.108A>G, NG_082261.1:g.395T>C, XM_005245088.3:c.108A>G, XM_005245088.2:c.108A>G, XM_005245088.1:c.108A>G, NM_001100108.1:c.108A>G

Select item 147599014112.

rs1475990141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:179121785 (GRCh38)
1:179090920 (GRCh37)
Canonical SPDI:: NC_000001.11:179121784:G:C
Gene:: ABL2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.179121785G>C, NC_000001.10:g.179090920G>C, NG_028242.1:g.112900C>G, NM_005158.5:c.725C>G, NM_005158.4:c.725C>G, NM_007314.4:c.770C>G, NM_007314.3:c.770C>G, NM_001136000.3:c.725C>G, NM_001136000.2:c.725C>G, NM_001168236.2:c.707C>G, NM_001168236.1:c.707C>G, NM_001168237.2:c.770C>G, NM_001168237.1:c.770C>G, NM_001168238.2:c.707C>G, NM_001168238.1:c.707C>G, NM_001168239.2:c.662C>G, NM_001168239.1:c.662C>G, NM_001136001.2:c.707C>G, NM_001136001.1:c.707C>G, XR_921764.4:n.1050C>G, XR_921764.3:n.1054C>G, XR_921764.2:n.1035C>G, XR_921764.1:n.1026C>G, XM_005245088.3:c.662C>G, XM_005245088.2:c.662C>G, XM_005245088.1:c.662C>G, XM_017001035.2:c.770C>G, XM_017001035.1:c.770C>G, XR_921765.2:n.987C>G, XR_921765.1:n.1003C>G, NM_001100108.1:c.725C>G, XR_007058798.1:n.1050C>G, NP_005149.4:p.Thr242Arg, NP_009298.1:p.Thr257Arg, NP_001129472.1:p.Thr242Arg, NP_001161708.1:p.Thr236Arg, NP_001161709.1:p.Thr257Arg, NP_001161710.1:p.Thr236Arg, NP_001161711.1:p.Thr221Arg, NP_001129473.1:p.Thr236Arg, XP_005245145.1:p.Thr221Arg, XP_016856524.1:p.Thr257Arg

Select item 147499676713.

rs1474996767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:179110337 (GRCh38)
1:179079472 (GRCh37)
Canonical SPDI:: NC_000001.11:179110336:C:T
Gene:: ABL2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.179110337C>T, NC_000001.10:g.179079472C>T, NG_028242.1:g.124348G>A, NM_005158.5:c.1725G>A, NM_005158.4:c.1725G>A, NM_007314.4:c.1770G>A, NM_007314.3:c.1770G>A, NM_001136000.3:c.1725G>A, NM_001136000.2:c.1725G>A, NM_001168236.2:c.1707G>A, NM_001168236.1:c.1707G>A, NM_001168237.2:c.1770G>A, NM_001168237.1:c.1770G>A, NM_001168238.2:c.1707G>A, NM_001168238.1:c.1707G>A, NM_001168239.2:c.1662G>A, NM_001168239.1:c.1662G>A, XM_005245088.3:c.1662G>A, XM_005245088.2:c.1662G>A, XM_005245088.1:c.1662G>A, XM_017001035.2:c.1770G>A, XM_017001035.1:c.1770G>A, NM_001100108.1:c.1725G>A

Select item 147368364314.

rs1473683643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:179114905 (GRCh38)
1:179084040 (GRCh37)
Canonical SPDI:: NC_000001.11:179114904:G:A,NC_000001.11:179114904:G:T
Gene:: ABL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.179114905G>A, NC_000001.11:g.179114905G>T, NC_000001.10:g.179084040G>A, NC_000001.10:g.179084040G>T, NG_028242.1:g.119780C>T, NG_028242.1:g.119780C>A, NM_005158.5:c.1489C>T, NM_005158.5:c.1489C>A, NM_005158.4:c.1489C>T, NM_005158.4:c.1489C>A, NM_007314.4:c.1534C>T, NM_007314.4:c.1534C>A, NM_007314.3:c.1534C>T, NM_007314.3:c.1534C>A, NM_001136000.3:c.1489C>T, NM_001136000.3:c.1489C>A, NM_001136000.2:c.1489C>T, NM_001136000.2:c.1489C>A, NM_001168236.2:c.1471C>T, NM_001168236.2:c.1471C>A, NM_001168236.1:c.1471C>T, NM_001168236.1:c.1471C>A, NM_001168237.2:c.1534C>T, NM_001168237.2:c.1534C>A, NM_001168237.1:c.1534C>T, NM_001168237.1:c.1534C>A, NM_001168238.2:c.1471C>T, NM_001168238.2:c.1471C>A, NM_001168238.1:c.1471C>T, NM_001168238.1:c.1471C>A, NM_001168239.2:c.1426C>T, NM_001168239.2:c.1426C>A, NM_001168239.1:c.1426C>T, NM_001168239.1:c.1426C>A, NM_001136001.2:c.1471C>T, NM_001136001.2:c.1471C>A, NM_001136001.1:c.1471C>T, NM_001136001.1:c.1471C>A, XR_921764.4:n.1814C>T, XR_921764.4:n.1814C>A, XR_921764.3:n.1818C>T, XR_921764.3:n.1818C>A, XR_921764.2:n.1799C>T, XR_921764.2:n.1799C>A, XR_921764.1:n.1790C>T, XR_921764.1:n.1790C>A, XM_005245088.3:c.1426C>T, XM_005245088.3:c.1426C>A, XM_005245088.2:c.1426C>T, XM_005245088.2:c.1426C>A, XM_005245088.1:c.1426C>T, XM_005245088.1:c.1426C>A, XM_017001035.2:c.1534C>T, XM_017001035.2:c.1534C>A, XM_017001035.1:c.1534C>T, XM_017001035.1:c.1534C>A, XR_921765.2:n.1751C>T, XR_921765.2:n.1751C>A, XR_921765.1:n.1767C>T, XR_921765.1:n.1767C>A, NM_001100108.1:c.1489C>T, NM_001100108.1:c.1489C>A, XR_007058798.1:n.1814C>T, XR_007058798.1:n.1814C>A, NP_005149.4:p.Pro497Ser, NP_005149.4:p.Pro497Thr, NP_009298.1:p.Pro512Ser, NP_009298.1:p.Pro512Thr, NP_001129472.1:p.Pro497Ser, NP_001129472.1:p.Pro497Thr, NP_001161708.1:p.Pro491Ser, NP_001161708.1:p.Pro491Thr, NP_001161709.1:p.Pro512Ser, NP_001161709.1:p.Pro512Thr, NP_001161710.1:p.Pro491Ser, NP_001161710.1:p.Pro491Thr, NP_001161711.1:p.Pro476Ser, NP_001161711.1:p.Pro476Thr, NP_001129473.1:p.Pro491Ser, NP_001129473.1:p.Pro491Thr, XP_005245145.1:p.Pro476Ser, XP_005245145.1:p.Pro476Thr, XP_016856524.1:p.Pro512Ser, XP_016856524.1:p.Pro512Thr

Select item 147366360215.

rs1473663602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:179108342 (GRCh38)
1:179077477 (GRCh37)
Canonical SPDI:: NC_000001.11:179108341:G:C
Gene:: ABL2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.179108342G>C, NC_000001.10:g.179077477G>C, NG_028242.1:g.126343C>G, NM_005158.5:c.2880C>G, NM_005158.4:c.2880C>G, NM_007314.4:c.2925C>G, NM_007314.3:c.2925C>G, NM_001136000.3:c.2571C>G, NM_001136000.2:c.2571C>G, NM_001168236.2:c.2862C>G, NM_001168236.1:c.2862C>G, NM_001168237.2:c.2616C>G, NM_001168237.1:c.2616C>G, NM_001168238.2:c.2553C>G, NM_001168238.1:c.2553C>G, NM_001168239.2:c.2508C>G, NM_001168239.1:c.2508C>G, XM_005245088.3:c.2817C>G, XM_005245088.2:c.2817C>G, XM_005245088.1:c.2817C>G, XM_017001035.2:c.2925C>G, XM_017001035.1:c.2925C>G, NM_001100108.1:c.2880C>G

Select item 147281434116.

rs1472814341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:179108139 (GRCh38)
1:179077274 (GRCh37)
Canonical SPDI:: NC_000001.11:179108138:G:A
Gene:: ABL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.179108139G>A, NC_000001.10:g.179077274G>A, NG_028242.1:g.126546C>T, NM_005158.5:c.3083C>T, NM_005158.4:c.3083C>T, NM_007314.4:c.3128C>T, NM_007314.3:c.3128C>T, NM_001136000.3:c.2774C>T, NM_001136000.2:c.2774C>T, NM_001168236.2:c.3065C>T, NM_001168236.1:c.3065C>T, NM_001168237.2:c.2819C>T, NM_001168237.1:c.2819C>T, NM_001168238.2:c.2756C>T, NM_001168238.1:c.2756C>T, NM_001168239.2:c.2711C>T, NM_001168239.1:c.2711C>T, XM_005245088.3:c.3020C>T, XM_005245088.2:c.3020C>T, XM_005245088.1:c.3020C>T, XM_017001035.2:c.3128C>T, XM_017001035.1:c.3128C>T, NM_001100108.1:c.3083C>T, NP_005149.4:p.Pro1028Leu, NP_009298.1:p.Pro1043Leu, NP_001129472.1:p.Pro925Leu, NP_001161708.1:p.Pro1022Leu, NP_001161709.1:p.Pro940Leu, NP_001161710.1:p.Pro919Leu, NP_001161711.1:p.Pro904Leu, XP_005245145.1:p.Pro1007Leu, XP_016856524.1:p.Pro1043Leu

Select item 147217776117.

rs1472177761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:179108719 (GRCh38)
1:179077854 (GRCh37)
Canonical SPDI:: NC_000001.11:179108718:C:A,NC_000001.11:179108718:C:G
Gene:: ABL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.179108719C>A, NC_000001.11:g.179108719C>G, NC_000001.10:g.179077854C>A, NC_000001.10:g.179077854C>G, NG_028242.1:g.125966G>T, NG_028242.1:g.125966G>C, NM_005158.5:c.2503G>T, NM_005158.5:c.2503G>C, NM_005158.4:c.2503G>T, NM_005158.4:c.2503G>C, NM_007314.4:c.2548G>T, NM_007314.4:c.2548G>C, NM_007314.3:c.2548G>T, NM_007314.3:c.2548G>C, NM_001136000.3:c.2194G>T, NM_001136000.3:c.2194G>C, NM_001136000.2:c.2194G>T, NM_001136000.2:c.2194G>C, NM_001168236.2:c.2485G>T, NM_001168236.2:c.2485G>C, NM_001168236.1:c.2485G>T, NM_001168236.1:c.2485G>C, NM_001168237.2:c.2239G>T, NM_001168237.2:c.2239G>C, NM_001168237.1:c.2239G>T, NM_001168237.1:c.2239G>C, NM_001168238.2:c.2176G>T, NM_001168238.2:c.2176G>C, NM_001168238.1:c.2176G>T, NM_001168238.1:c.2176G>C, NM_001168239.2:c.2131G>T, NM_001168239.2:c.2131G>C, NM_001168239.1:c.2131G>T, NM_001168239.1:c.2131G>C, XM_005245088.3:c.2440G>T, XM_005245088.3:c.2440G>C, XM_005245088.2:c.2440G>T, XM_005245088.2:c.2440G>C, XM_005245088.1:c.2440G>T, XM_005245088.1:c.2440G>C, XM_017001035.2:c.2548G>T, XM_017001035.2:c.2548G>C, XM_017001035.1:c.2548G>T, XM_017001035.1:c.2548G>C, NM_001100108.1:c.2503G>T, NM_001100108.1:c.2503G>C, NP_005149.4:p.Ala835Ser, NP_005149.4:p.Ala835Pro, NP_009298.1:p.Ala850Ser, NP_009298.1:p.Ala850Pro, NP_001129472.1:p.Ala732Ser, NP_001129472.1:p.Ala732Pro, NP_001161708.1:p.Ala829Ser, NP_001161708.1:p.Ala829Pro, NP_001161709.1:p.Ala747Ser, NP_001161709.1:p.Ala747Pro, NP_001161710.1:p.Ala726Ser, NP_001161710.1:p.Ala726Pro, NP_001161711.1:p.Ala711Ser, NP_001161711.1:p.Ala711Pro, XP_005245145.1:p.Ala814Ser, XP_005245145.1:p.Ala814Pro, XP_016856524.1:p.Ala850Ser, XP_016856524.1:p.Ala850Pro

Select item 147115823518.

rs1471158235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:179108521 (GRCh38)
1:179077656 (GRCh37)
Canonical SPDI:: NC_000001.11:179108520:G:A
Gene:: ABL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.179108521G>A, NC_000001.10:g.179077656G>A, NG_028242.1:g.126164C>T, NM_005158.5:c.2701C>T, NM_005158.4:c.2701C>T, NM_007314.4:c.2746C>T, NM_007314.3:c.2746C>T, NM_001136000.3:c.2392C>T, NM_001136000.2:c.2392C>T, NM_001168236.2:c.2683C>T, NM_001168236.1:c.2683C>T, NM_001168237.2:c.2437C>T, NM_001168237.1:c.2437C>T, NM_001168238.2:c.2374C>T, NM_001168238.1:c.2374C>T, NM_001168239.2:c.2329C>T, NM_001168239.1:c.2329C>T, XM_005245088.3:c.2638C>T, XM_005245088.2:c.2638C>T, XM_005245088.1:c.2638C>T, XM_017001035.2:c.2746C>T, XM_017001035.1:c.2746C>T, NM_001100108.1:c.2701C>T, NP_005149.4:p.Pro901Ser, NP_009298.1:p.Pro916Ser, NP_001129472.1:p.Pro798Ser, NP_001161708.1:p.Pro895Ser, NP_001161709.1:p.Pro813Ser, NP_001161710.1:p.Pro792Ser, NP_001161711.1:p.Pro777Ser, XP_005245145.1:p.Pro880Ser, XP_016856524.1:p.Pro916Ser

Select item 147072587919.

rs1470725879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:179108408 (GRCh38)
1:179077543 (GRCh37)
Canonical SPDI:: NC_000001.11:179108407:A:G
Gene:: ABL2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.179108408A>G, NC_000001.10:g.179077543A>G, NG_028242.1:g.126277T>C, NM_005158.5:c.2814T>C, NM_005158.4:c.2814T>C, NM_007314.4:c.2859T>C, NM_007314.3:c.2859T>C, NM_001136000.3:c.2505T>C, NM_001136000.2:c.2505T>C, NM_001168236.2:c.2796T>C, NM_001168236.1:c.2796T>C, NM_001168237.2:c.2550T>C, NM_001168237.1:c.2550T>C, NM_001168238.2:c.2487T>C, NM_001168238.1:c.2487T>C, NM_001168239.2:c.2442T>C, NM_001168239.1:c.2442T>C, XM_005245088.3:c.2751T>C, XM_005245088.2:c.2751T>C, XM_005245088.1:c.2751T>C, XM_017001035.2:c.2859T>C, XM_017001035.1:c.2859T>C, NM_001100108.1:c.2814T>C

Select item 147009959420.

rs1470099594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:179133339 (GRCh38)
1:179102474 (GRCh37)
Canonical SPDI:: NC_000001.11:179133338:C:T
Gene:: ABL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.179133339C>T, NC_000001.10:g.179102474C>T, NG_028242.1:g.101346G>A, NM_005158.5:c.148G>A, NM_005158.4:c.148G>A, NM_007314.4:c.193G>A, NM_007314.3:c.193G>A, NM_001136000.3:c.148G>A, NM_001136000.2:c.148G>A, NM_001168237.2:c.193G>A, NM_001168237.1:c.193G>A, XR_921764.4:n.473G>A, XR_921764.3:n.477G>A, XR_921764.2:n.458G>A, XR_921764.1:n.449G>A, NM_001100108.1:c.148G>A, XR_007058798.1:n.473G>A, NP_005149.4:p.Gly50Arg, NP_009298.1:p.Gly65Arg, NP_001129472.1:p.Gly50Arg, NP_001161709.1:p.Gly65Arg

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