SNP Links for Protein (Select 157671929) - SNP

Links from Protein

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Select item 14908705451.

rs1490870545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:17135113 (GRCh38)
11:17156660 (GRCh37)
Canonical SPDI:: NC_000011.10:17135112:C:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17135113C>G, NC_000011.9:g.17156660C>G, NM_002645.4:c.1895G>C, NM_002645.3:c.1895G>C, NM_002645.2:c.1895G>C, NM_001321378.2:c.1895G>C, NM_001321378.1:c.1895G>C, NM_001321380.2:c.755G>C, NM_001321380.1:c.755G>C, XM_047427127.1:c.1895G>C, XM_047427128.1:c.1895G>C, NM_001386870.1:c.1895G>C, NP_002636.2:p.Arg632Thr, NP_001308307.1:p.Arg632Thr, NP_001308309.1:p.Arg252Thr, XP_047283083.1:p.Arg632Thr, XP_047283084.1:p.Arg632Thr, NP_001373799.1:p.Arg632Thr

Select item 14901832882.

rs1490183288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17145899 (GRCh38)
11:17167446 (GRCh37)
Canonical SPDI:: NC_000011.10:17145898:T:C
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17145899T>C, NC_000011.9:g.17167446T>C, NM_002645.4:c.1604A>G, NM_002645.3:c.1604A>G, NM_002645.2:c.1604A>G, NM_001321378.2:c.1604A>G, NM_001321378.1:c.1604A>G, NM_001321380.2:c.464A>G, NM_001321380.1:c.464A>G, XM_047427127.1:c.1604A>G, XM_047427128.1:c.1604A>G, NM_001386870.1:c.1604A>G, NP_002636.2:p.Tyr535Cys, NP_001308307.1:p.Tyr535Cys, NP_001308309.1:p.Tyr155Cys, XP_047283083.1:p.Tyr535Cys, XP_047283084.1:p.Tyr535Cys, NP_001373799.1:p.Tyr535Cys

Select item 14899128683.

rs1489912868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17110521 (GRCh38)
11:17132068 (GRCh37)
Canonical SPDI:: NC_000011.10:17110520:A:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.17110521A>G, NC_000011.9:g.17132068A>G, NM_002645.4:c.3455T>C, NM_002645.3:c.3455T>C, NM_002645.2:c.3455T>C, NM_001321378.2:c.3455T>C, NM_001321378.1:c.3455T>C, NM_001321380.2:c.2315T>C, NM_001321380.1:c.2315T>C, XM_047427127.1:c.3455T>C, XM_047427128.1:c.3287T>C, NM_001386870.1:c.3287T>C, NP_002636.2:p.Met1152Thr, NP_001308307.1:p.Met1152Thr, NP_001308309.1:p.Met772Thr, XP_047283083.1:p.Met1152Thr, XP_047283084.1:p.Met1096Thr, NP_001373799.1:p.Met1096Thr

Select item 14891997214.

rs1489199721 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:17168994 (GRCh38)
11:17190541 (GRCh37)
Canonical SPDI:: NC_000011.10:17168992:TCT:T
Gene:: PIK3C2A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17168994_17168995del, NC_000011.9:g.17190541_17190542del, NM_002645.4:c.748_749del, NM_002645.3:c.748_749del, NM_002645.2:c.748_749del, NM_001321378.2:c.748_749del, NM_001321378.1:c.748_749del, XM_047427127.1:c.748_749del, XM_047427128.1:c.748_749del, NM_001386870.1:c.748_749del, NP_002636.2:p.Asp250fs, NP_001308307.1:p.Asp250fs, XP_047283083.1:p.Asp250fs, XP_047283084.1:p.Asp250fs, NP_001373799.1:p.Asp250fs

Select item 14890392685.

rs1489039268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:17150534 (GRCh38)
11:17172081 (GRCh37)
Canonical SPDI:: NC_000011.10:17150533:C:T
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000049/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.17150534C>T, NC_000011.9:g.17172081C>T, NM_002645.4:c.1291G>A, NM_002645.3:c.1291G>A, NM_002645.2:c.1291G>A, NM_001321378.2:c.1291G>A, NM_001321378.1:c.1291G>A, NM_001321380.2:c.151G>A, NM_001321380.1:c.151G>A, XM_047427127.1:c.1291G>A, XM_047427128.1:c.1291G>A, NM_001386870.1:c.1291G>A, NP_002636.2:p.Glu431Lys, NP_001308307.1:p.Glu431Lys, NP_001308309.1:p.Glu51Lys, XP_047283083.1:p.Glu431Lys, XP_047283084.1:p.Glu431Lys, NP_001373799.1:p.Glu431Lys

Select item 14883095306.

rs1488309530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:17101303 (GRCh38)
11:17122850 (GRCh37)
Canonical SPDI:: NC_000011.10:17101302:T:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.17101303T>G, NC_000011.9:g.17122850T>G, NM_002645.4:c.3983A>C, NM_002645.3:c.3983A>C, NM_002645.2:c.3983A>C, NM_001321378.2:c.3983A>C, NM_001321378.1:c.3983A>C, NM_001321380.2:c.2843A>C, NM_001321380.1:c.2843A>C, XM_047427127.1:c.3983A>C, XM_047427128.1:c.3815A>C, NM_001386870.1:c.3815A>C, NP_002636.2:p.Asn1328Thr, NP_001308307.1:p.Asn1328Thr, NP_001308309.1:p.Asn948Thr, XP_047283083.1:p.Asn1328Thr, XP_047283084.1:p.Asn1272Thr, NP_001373799.1:p.Asn1272Thr

Select item 14878349177.

rs1487834917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17169457 (GRCh38)
11:17191004 (GRCh37)
Canonical SPDI:: NC_000011.10:17169456:G:A
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17169457G>A, NC_000011.9:g.17191004G>A, NM_002645.4:c.285C>T, NM_002645.3:c.285C>T, NM_002645.2:c.285C>T, NM_001321378.2:c.285C>T, NM_001321378.1:c.285C>T, XM_047427127.1:c.285C>T, XM_047427128.1:c.285C>T, NM_001386870.1:c.285C>T

Select item 14877043808.

rs1487704380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17131927 (GRCh38)
11:17153474 (GRCh37)
Canonical SPDI:: NC_000011.10:17131926:T:C
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17131927T>C, NC_000011.9:g.17153474T>C, NM_002645.4:c.2220A>G, NM_002645.3:c.2220A>G, NM_002645.2:c.2220A>G, NM_001321378.2:c.2220A>G, NM_001321378.1:c.2220A>G, NM_001321380.2:c.1080A>G, NM_001321380.1:c.1080A>G, XM_047427127.1:c.2220A>G, XM_047427128.1:c.2220A>G, NM_001386870.1:c.2220A>G

Select item 14875909179.

rs1487590917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:17097203 (GRCh38)
11:17118750 (GRCh37)
Canonical SPDI:: NC_000011.10:17097202:C:T
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17097203C>T, NC_000011.9:g.17118750C>T, NM_002645.4:c.4180G>A, NM_002645.3:c.4180G>A, NM_002645.2:c.4180G>A, NM_001321378.2:c.4180G>A, NM_001321378.1:c.4180G>A, NM_001321380.2:c.3040G>A, NM_001321380.1:c.3040G>A, XM_047427127.1:c.4180G>A, XM_047427128.1:c.4012G>A, NM_001386870.1:c.4012G>A, NP_002636.2:p.Ala1394Thr, NP_001308307.1:p.Ala1394Thr, NP_001308309.1:p.Ala1014Thr, XP_047283083.1:p.Ala1394Thr, XP_047283084.1:p.Ala1338Thr, NP_001373799.1:p.Ala1338Thr

Select item 148741368810.

rs1487413688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17169550 (GRCh38)
11:17191097 (GRCh37)
Canonical SPDI:: NC_000011.10:17169549:T:C
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17169550T>C, NC_000011.9:g.17191097T>C, NM_002645.4:c.192A>G, NM_002645.3:c.192A>G, NM_002645.2:c.192A>G, NM_001321378.2:c.192A>G, NM_001321378.1:c.192A>G, XM_047427127.1:c.192A>G, XM_047427128.1:c.192A>G, NM_001386870.1:c.192A>G

Select item 148731143511.

rs1487311435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17147595 (GRCh38)
11:17169142 (GRCh37)
Canonical SPDI:: NC_000011.10:17147594:T:C
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.17147595T>C, NC_000011.9:g.17169142T>C, NM_002645.4:c.1482A>G, NM_002645.3:c.1482A>G, NM_002645.2:c.1482A>G, NM_001321378.2:c.1482A>G, NM_001321378.1:c.1482A>G, NM_001321380.2:c.342A>G, NM_001321380.1:c.342A>G, XM_047427127.1:c.1482A>G, XM_047427128.1:c.1482A>G, NM_001386870.1:c.1482A>G

Select item 148728168212.

rs1487281682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17169148 (GRCh38)
11:17190695 (GRCh37)
Canonical SPDI:: NC_000011.10:17169147:A:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.17169148A>G, NC_000011.9:g.17190695A>G, NM_002645.4:c.594T>C, NM_002645.3:c.594T>C, NM_002645.2:c.594T>C, NM_001321378.2:c.594T>C, NM_001321378.1:c.594T>C, XM_047427127.1:c.594T>C, XM_047427128.1:c.594T>C, NM_001386870.1:c.594T>C

Select item 148695797713.

rs1486957977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17094265 (GRCh38)
11:17115812 (GRCh37)
Canonical SPDI:: NC_000011.10:17094264:G:A
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17094265G>A, NC_000011.9:g.17115812G>A, NM_002645.4:c.4447C>T, NM_002645.3:c.4447C>T, NM_002645.2:c.4447C>T, NM_001321378.2:c.4447C>T, NM_001321378.1:c.4447C>T, NM_001321380.2:c.3307C>T, NM_001321380.1:c.3307C>T, XM_047427127.1:c.4447C>T, XM_047427128.1:c.4279C>T, NM_001386870.1:c.4279C>T, NP_002636.2:p.Pro1483Ser, NP_001308307.1:p.Pro1483Ser, NP_001308309.1:p.Pro1103Ser, XP_047283083.1:p.Pro1483Ser, XP_047283084.1:p.Pro1427Ser, NP_001373799.1:p.Pro1427Ser

Select item 148610165614.

rs1486101656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:17089809 (GRCh38)
11:17111356 (GRCh37)
Canonical SPDI:: NC_000011.10:17089808:G:C
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17089809G>C, NC_000011.9:g.17111356G>C, NM_002645.4:c.4990C>G, NM_002645.3:c.4990C>G, NM_002645.2:c.4990C>G, NM_001321378.2:c.4990C>G, NM_001321378.1:c.4990C>G, NM_001321380.2:c.3850C>G, NM_001321380.1:c.3850C>G, XM_047427127.1:c.4990C>G, XM_047427128.1:c.4822C>G, NM_001386870.1:c.4822C>G, NP_002636.2:p.Pro1664Ala, NP_001308307.1:p.Pro1664Ala, NP_001308309.1:p.Pro1284Ala, XP_047283083.1:p.Pro1664Ala, XP_047283084.1:p.Pro1608Ala, NP_001373799.1:p.Pro1608Ala

Select item 148534845315.

rs1485348453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17114456 (GRCh38)
11:17136003 (GRCh37)
Canonical SPDI:: NC_000011.10:17114455:G:A
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17114456G>A, NC_000011.9:g.17136003G>A, NM_002645.4:c.3226C>T, NM_002645.3:c.3226C>T, NM_002645.2:c.3226C>T, NM_001321378.2:c.3226C>T, NM_001321378.1:c.3226C>T, NM_001321380.2:c.2086C>T, NM_001321380.1:c.2086C>T, XM_047427127.1:c.3226C>T, XM_047427128.1:c.3058C>T, NM_001386870.1:c.3058C>T, NP_002636.2:p.Gln1076Ter, NP_001308307.1:p.Gln1076Ter, NP_001308309.1:p.Gln696Ter, XP_047283083.1:p.Gln1076Ter, XP_047283084.1:p.Gln1020Ter, NP_001373799.1:p.Gln1020Ter

Select item 148529924216.

rs1485299242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17097131 (GRCh38)
11:17118678 (GRCh37)
Canonical SPDI:: NC_000011.10:17097130:A:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.17097131A>G, NC_000011.9:g.17118678A>G, NM_002645.4:c.4252T>C, NM_002645.3:c.4252T>C, NM_002645.2:c.4252T>C, NM_001321378.2:c.4252T>C, NM_001321378.1:c.4252T>C, NM_001321380.2:c.3112T>C, NM_001321380.1:c.3112T>C, XM_047427127.1:c.4252T>C, XM_047427128.1:c.4084T>C, NM_001386870.1:c.4084T>C, NP_002636.2:p.Phe1418Leu, NP_001308307.1:p.Phe1418Leu, NP_001308309.1:p.Phe1038Leu, XP_047283083.1:p.Phe1418Leu, XP_047283084.1:p.Phe1362Leu, NP_001373799.1:p.Phe1362Leu

Select item 148508754117.

rs1485087541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:17122240 (GRCh38)
11:17143787 (GRCh37)
Canonical SPDI:: NC_000011.10:17122239:T:C
Gene:: PIK3C2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.17122240T>C, NC_000011.9:g.17143787T>C, NM_002645.4:c.2605A>G, NM_002645.3:c.2605A>G, NM_002645.2:c.2605A>G, NM_001321378.2:c.2605A>G, NM_001321378.1:c.2605A>G, NM_001321380.2:c.1465A>G, NM_001321380.1:c.1465A>G, XM_047427127.1:c.2605A>G, XM_047427128.1:c.2437A>G, NM_001386870.1:c.2437A>G, NP_002636.2:p.Asn869Asp, NP_001308307.1:p.Asn869Asp, NP_001308309.1:p.Asn489Asp, XP_047283083.1:p.Asn869Asp, XP_047283084.1:p.Asn813Asp, NP_001373799.1:p.Asn813Asp

Select item 148160890718.

rs1481608907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17147554 (GRCh38)
11:17169101 (GRCh37)
Canonical SPDI:: NC_000011.10:17147553:A:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.17147554A>G, NC_000011.9:g.17169101A>G, NM_002645.4:c.1523T>C, NM_002645.3:c.1523T>C, NM_002645.2:c.1523T>C, NM_001321378.2:c.1523T>C, NM_001321378.1:c.1523T>C, NM_001321380.2:c.383T>C, NM_001321380.1:c.383T>C, XM_047427127.1:c.1523T>C, XM_047427128.1:c.1523T>C, NM_001386870.1:c.1523T>C, NP_002636.2:p.Leu508Ser, NP_001308307.1:p.Leu508Ser, NP_001308309.1:p.Leu128Ser, XP_047283083.1:p.Leu508Ser, XP_047283084.1:p.Leu508Ser, NP_001373799.1:p.Leu508Ser

Select item 148146916419.

rs1481469164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17132035 (GRCh38)
11:17153582 (GRCh37)
Canonical SPDI:: NC_000011.10:17132034:A:G
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17132035A>G, NC_000011.9:g.17153582A>G, NM_002645.4:c.2112T>C, NM_002645.3:c.2112T>C, NM_002645.2:c.2112T>C, NM_001321378.2:c.2112T>C, NM_001321378.1:c.2112T>C, NM_001321380.2:c.972T>C, NM_001321380.1:c.972T>C, XM_047427127.1:c.2112T>C, XM_047427128.1:c.2112T>C, NM_001386870.1:c.2112T>C

Select item 148127923320.

rs1481279233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:17114372 (GRCh38)
11:17135919 (GRCh37)
Canonical SPDI:: NC_000011.10:17114371:A:T
Gene:: PIK3C2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17114372A>T, NC_000011.9:g.17135919A>T, NM_002645.4:c.3310T>A, NM_002645.3:c.3310T>A, NM_002645.2:c.3310T>A, NM_001321378.2:c.3310T>A, NM_001321378.1:c.3310T>A, NM_001321380.2:c.2170T>A, NM_001321380.1:c.2170T>A, XM_047427127.1:c.3310T>A, XM_047427128.1:c.3142T>A, NM_001386870.1:c.3142T>A, NP_002636.2:p.Leu1104Ile, NP_001308307.1:p.Leu1104Ile, NP_001308309.1:p.Leu724Ile, XP_047283083.1:p.Leu1104Ile, XP_047283084.1:p.Leu1048Ile, NP_001373799.1:p.Leu1048Ile

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