SNP Links for Protein (Select 1034585925) - SNP

Links from Protein

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Select item 14903248471.

rs1490324847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20345041 (GRCh38)
14:20813200 (GRCh37)
Canonical SPDI:: NC_000014.9:20345040:G:A
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_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_000014.9:g.20345041G>A, NG_033959.1:g.6428G>A, NM_005484.4:c.156G>A, NM_005484.3:c.156G>A, NM_001042618.2:c.156G>A, NM_001042618.1:c.156G>A, NW_025791796.1:g.547722G>A, NC_000014.8:g.20813200G>A, XM_005267247.4:c.156G>A, XM_005267247.3:c.156G>A, XM_005267247.2:c.156G>A, XM_005267247.1:c.156G>A, XM_017020912.2:c.156G>A, XM_017020912.1:c.156G>A

Select item 14886262792.

rs1488626279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20352282 (GRCh38)
14:20820441 (GRCh37)
Canonical SPDI:: NC_000014.9:20352281:G:A
Gene:: PARP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.20352282G>A, NG_033959.1:g.13669G>A, NM_005484.4:c.574G>A, NM_005484.3:c.574G>A, NM_001042618.2:c.535G>A, NM_001042618.1:c.535G>A, NW_025791796.1:g.554963G>A, NC_000014.8:g.20820441G>A, XM_005267247.4:c.574G>A, XM_005267247.3:c.574G>A, XM_005267247.2:c.574G>A, XM_005267247.1:c.574G>A, XM_017020912.2:c.535G>A, XM_017020912.1:c.535G>A, NP_005475.2:p.Glu192Lys, NP_001036083.1:p.Glu179Lys, XP_005267304.1:p.Glu192Lys, XP_016876401.1:p.Glu179Lys

Select item 14868107343.

rs1486810734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:20354926 (GRCh38)
14:20823085 (GRCh37)
Canonical SPDI:: NC_000014.9:20354925:C:A,NC_000014.9:20354925:C:T
Gene:: PARP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.20354926C>A, NC_000014.9:g.20354926C>T, NG_033959.1:g.16313C>A, NG_033959.1:g.16313C>T, NM_005484.4:c.920C>A, NM_005484.4:c.920C>T, NM_005484.3:c.920C>A, NM_005484.3:c.920C>T, NM_001042618.2:c.881C>A, NM_001042618.2:c.881C>T, NM_001042618.1:c.881C>A, NM_001042618.1:c.881C>T, NW_025791796.1:g.557607C>A, NW_025791796.1:g.557607C>T, NC_000014.8:g.20823085C>A, NC_000014.8:g.20823085C>T, XM_005267247.4:c.920C>A, XM_005267247.4:c.920C>T, XM_005267247.3:c.920C>A, XM_005267247.3:c.920C>T, XM_005267247.2:c.920C>A, XM_005267247.2:c.920C>T, XM_005267247.1:c.920C>A, XM_005267247.1:c.920C>T, XM_017020912.2:c.881C>A, XM_017020912.2:c.881C>T, XM_017020912.1:c.881C>A, XM_017020912.1:c.881C>T, XM_047430869.1:c.26C>A, XM_047430869.1:c.26C>T, NP_005475.2:p.Thr307Asn, NP_005475.2:p.Thr307Ile, NP_001036083.1:p.Thr294Asn, NP_001036083.1:p.Thr294Ile, XP_005267304.1:p.Thr307Asn, XP_005267304.1:p.Thr307Ile, XP_016876401.1:p.Thr294Asn, XP_016876401.1:p.Thr294Ile, XP_047286825.1:p.Thr9Asn, XP_047286825.1:p.Thr9Ile

Select item 14826959244.

rs1482695924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:20356675 (GRCh38)
14:20824834 (GRCh37)
Canonical SPDI:: NC_000014.9:20356674:A:T
Gene:: PARP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20356675A>T, NG_033959.1:g.18062A>T, NM_005484.4:c.1354A>T, NM_005484.3:c.1354A>T, NM_001042618.2:c.1315A>T, NM_001042618.1:c.1315A>T, NW_025791796.1:g.559356A>T, NC_000014.8:g.20824834A>T, XM_005267247.4:c.1354A>T, XM_005267247.3:c.1354A>T, XM_005267247.2:c.1354A>T, XM_005267247.1:c.1354A>T, XM_017020912.2:c.1315A>T, XM_017020912.1:c.1315A>T, XM_047430869.1:c.460A>T, NP_005475.2:p.Ile452Phe, NP_001036083.1:p.Ile439Phe, XP_005267304.1:p.Ile452Phe, XP_016876401.1:p.Ile439Phe, XP_047286825.1:p.Ile154Phe

Select item 14826838565.

rs1482683856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGCGGCG,GCGGCGCGGCGGCG [Show Flanks]
Chromosome:: 14:20343643 (GRCh38)
14:20811803 (GRCh37)
Canonical SPDI:: NC_000014.9:20343643:GGCGGCGCGGCGGCG:GGCGGCGCGGCGGCGCGGCGGCG,NC_000014.9:20343643:GGCGGCGCGGCGGCG:GGCGGCGCGGCGGCGGCGGCGCGGCGGCG
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,initiator_codon_variant,genic_upstream_transcript_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGCGCGGCGGCGGCGGCGCGGCGGCG=0./0 (ALFA)
GGCGGCGCGGCGGC=0.000007/1 (GnomAD)
GGCGGCGC=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20343651_20343658dup, NC_000014.9:g.20343645_20343658dup, NG_033959.1:g.5038_5045dup, NG_033959.1:g.5032_5045dup, NM_005484.4:c.10_17dup, NM_005484.4:c.4_17dup, NM_005484.3:c.10_17dup, NM_005484.3:c.4_17dup, NM_001042618.2:c.10_17dup, NM_001042618.2:c.4_17dup, NM_001042618.1:c.10_17dup, NM_001042618.1:c.4_17dup, NW_025791796.1:g.546332_546339dup, NW_025791796.1:g.546326_546339dup, NC_000014.8:g.20811810_20811817dup, NC_000014.8:g.20811804_20811817dup, XM_005267247.4:c.10_17dup, XM_005267247.4:c.4_17dup, XM_005267247.3:c.10_17dup, XM_005267247.3:c.4_17dup, XM_005267247.2:c.10_17dup, XM_005267247.2:c.4_17dup, XM_005267247.1:c.10_17dup, XM_005267247.1:c.4_17dup, XM_017020912.2:c.10_17dup, XM_017020912.2:c.4_17dup, XM_017020912.1:c.10_17dup, XM_017020912.1:c.4_17dup, NP_005475.2:p.Arg7fs, NP_005475.2:p.Ser8fs, NP_001036083.1:p.Arg7fs, NP_001036083.1:p.Ser8fs, XP_005267304.1:p.Arg7fs, XP_005267304.1:p.Ser8fs, XP_016876401.1:p.Arg7fs, XP_016876401.1:p.Ser8fs

Select item 14746463376.

rs1474646337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:20354946 (GRCh38)
14:20823105 (GRCh37)
Canonical SPDI:: NC_000014.9:20354945:G:C
Gene:: PARP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20354946G>C, NG_033959.1:g.16333G>C, NM_005484.4:c.940G>C, NM_005484.3:c.940G>C, NM_001042618.2:c.901G>C, NM_001042618.1:c.901G>C, NW_025791796.1:g.557627G>C, NC_000014.8:g.20823105G>C, XM_005267247.4:c.940G>C, XM_005267247.3:c.940G>C, XM_005267247.2:c.940G>C, XM_005267247.1:c.940G>C, XM_017020912.2:c.901G>C, XM_017020912.1:c.901G>C, XM_047430869.1:c.46G>C, NP_005475.2:p.Gly314Arg, NP_001036083.1:p.Gly301Arg, XP_005267304.1:p.Gly314Arg, XP_016876401.1:p.Gly301Arg, XP_047286825.1:p.Gly16Arg

Select item 14718341797.

rs1471834179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20356029 (GRCh38)
14:20824188 (GRCh37)
Canonical SPDI:: NC_000014.9:20356028:A:G
Gene:: PARP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20356029A>G, NG_033959.1:g.17416A>G, NM_005484.4:c.1138A>G, NM_005484.3:c.1138A>G, NM_001042618.2:c.1099A>G, NM_001042618.1:c.1099A>G, NW_025791796.1:g.558710A>G, NC_000014.8:g.20824188A>G, XM_005267247.4:c.1138A>G, XM_005267247.3:c.1138A>G, XM_005267247.2:c.1138A>G, XM_005267247.1:c.1138A>G, XM_017020912.2:c.1099A>G, XM_017020912.1:c.1099A>G, XM_047430869.1:c.244A>G, NP_005475.2:p.Lys380Glu, NP_001036083.1:p.Lys367Glu, XP_005267304.1:p.Lys380Glu, XP_016876401.1:p.Lys367Glu, XP_047286825.1:p.Lys82Glu

Select item 14709182868.

rs1470918286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20350601 (GRCh38)
14:20818760 (GRCh37)
Canonical SPDI:: NC_000014.9:20350600:G:A
Gene:: PARP2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.20350601G>A, NG_033959.1:g.11988G>A, NM_005484.4:c.439G>A, NM_005484.3:c.439G>A, NM_001042618.2:c.400G>A, NM_001042618.1:c.400G>A, NW_025791796.1:g.553282G>A, NC_000014.8:g.20818760G>A, XM_005267247.4:c.439G>A, XM_005267247.3:c.439G>A, XM_005267247.2:c.439G>A, XM_005267247.1:c.439G>A, XM_017020912.2:c.400G>A, XM_017020912.1:c.400G>A, NP_005475.2:p.Val147Ile, NP_001036083.1:p.Val134Ile, XP_005267304.1:p.Val147Ile, XP_016876401.1:p.Val134Ile

Select item 14630609809.

rs1463060980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20355903 (GRCh38)
14:20824062 (GRCh37)
Canonical SPDI:: NC_000014.9:20355902:G:A
Gene:: PARP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20355903G>A, NG_033959.1:g.17290G>A, NM_005484.4:c.1012G>A, NM_005484.3:c.1012G>A, NM_001042618.2:c.973G>A, NM_001042618.1:c.973G>A, NW_025791796.1:g.558584G>A, NC_000014.8:g.20824062G>A, XM_005267247.4:c.1012G>A, XM_005267247.3:c.1012G>A, XM_005267247.2:c.1012G>A, XM_005267247.1:c.1012G>A, XM_017020912.2:c.973G>A, XM_017020912.1:c.973G>A, XM_047430869.1:c.118G>A, NP_005475.2:p.Gly338Arg, NP_001036083.1:p.Gly325Arg, XP_005267304.1:p.Gly338Arg, XP_016876401.1:p.Gly325Arg, XP_047286825.1:p.Gly40Arg

Select item 146256258510.

rs1462562585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20355759 (GRCh38)
14:20823918 (GRCh37)
Canonical SPDI:: NC_000014.9:20355758:A:G
Gene:: PARP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000014.9:g.20355759A>G, NG_033959.1:g.17146A>G, NM_005484.4:c.949A>G, NM_005484.3:c.949A>G, NM_001042618.2:c.910A>G, NM_001042618.1:c.910A>G, NW_025791796.1:g.558440A>G, NC_000014.8:g.20823918A>G, XM_005267247.4:c.949A>G, XM_005267247.3:c.949A>G, XM_005267247.2:c.949A>G, XM_005267247.1:c.949A>G, XM_017020912.2:c.910A>G, XM_017020912.1:c.910A>G, XM_047430869.1:c.55A>G, NP_005475.2:p.Thr317Ala, NP_001036083.1:p.Thr304Ala, XP_005267304.1:p.Thr317Ala, XP_016876401.1:p.Thr304Ala, XP_047286825.1:p.Thr19Ala

Select item 146136584111.

rs1461365841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20354883 (GRCh38)
14:20823042 (GRCh37)
Canonical SPDI:: NC_000014.9:20354882:C:T
Gene:: PARP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.20354883C>T, NG_033959.1:g.16270C>T, NM_005484.4:c.877C>T, NM_005484.3:c.877C>T, NM_001042618.2:c.838C>T, NM_001042618.1:c.838C>T, NW_025791796.1:g.557564C>T, NC_000014.8:g.20823042C>T, XM_005267247.4:c.877C>T, XM_005267247.3:c.877C>T, XM_005267247.2:c.877C>T, XM_005267247.1:c.877C>T, XM_017020912.2:c.838C>T, XM_017020912.1:c.838C>T, XM_047430869.1:c.-18C>T, NP_005475.2:p.Gln293Ter, NP_001036083.1:p.Gln280Ter, XP_005267304.1:p.Gln293Ter, XP_016876401.1:p.Gln280Ter

Select item 146132477812.

rs1461324778 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:20343667 (GRCh38)
14:20811826 (GRCh37)
Canonical SPDI:: NC_000014.9:20343666:CC:C
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20343668del, NG_033959.1:g.5055del, NM_005484.4:c.27del, NM_005484.3:c.27del, NM_001042618.2:c.27del, NM_001042618.1:c.27del, NW_025791796.1:g.546349del, NC_000014.8:g.20811827del, XM_005267247.4:c.27del, XM_005267247.3:c.27del, XM_005267247.2:c.27del, XM_005267247.1:c.27del, XM_017020912.2:c.27del, XM_017020912.1:c.27del, NP_005475.2:p.Gly10fs, NP_001036083.1:p.Gly10fs, XP_005267304.1:p.Gly10fs, XP_016876401.1:p.Gly10fs

Select item 146043871813.

rs1460438718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:20354863 (GRCh38)
14:20823022 (GRCh37)
Canonical SPDI:: NC_000014.9:20354862:A:C
Gene:: PARP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20354863A>C, NG_033959.1:g.16250A>C, NM_005484.4:c.857A>C, NM_005484.3:c.857A>C, NM_001042618.2:c.818A>C, NM_001042618.1:c.818A>C, NW_025791796.1:g.557544A>C, NC_000014.8:g.20823022A>C, XM_005267247.4:c.857A>C, XM_005267247.3:c.857A>C, XM_005267247.2:c.857A>C, XM_005267247.1:c.857A>C, XM_017020912.2:c.818A>C, XM_017020912.1:c.818A>C, XM_047430869.1:c.-38A>C, NP_005475.2:p.Glu286Ala, NP_001036083.1:p.Glu273Ala, XP_005267304.1:p.Glu286Ala, XP_016876401.1:p.Glu273Ala

Select item 145422386914.

rs1454223869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:20352262 (GRCh38)
14:20820421 (GRCh37)
Canonical SPDI:: NC_000014.9:20352261:A:G,NC_000014.9:20352261:A:T
Gene:: PARP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.20352262A>G, NC_000014.9:g.20352262A>T, NG_033959.1:g.13649A>G, NG_033959.1:g.13649A>T, NM_005484.4:c.554A>G, NM_005484.4:c.554A>T, NM_005484.3:c.554A>G, NM_005484.3:c.554A>T, NM_001042618.2:c.515A>G, NM_001042618.2:c.515A>T, NM_001042618.1:c.515A>G, NM_001042618.1:c.515A>T, NW_025791796.1:g.554943A>G, NW_025791796.1:g.554943A>T, NC_000014.8:g.20820421A>G, NC_000014.8:g.20820421A>T, XM_005267247.4:c.554A>G, XM_005267247.4:c.554A>T, XM_005267247.3:c.554A>G, XM_005267247.3:c.554A>T, XM_005267247.2:c.554A>G, XM_005267247.2:c.554A>T, XM_005267247.1:c.554A>G, XM_005267247.1:c.554A>T, XM_017020912.2:c.515A>G, XM_017020912.2:c.515A>T, XM_017020912.1:c.515A>G, XM_017020912.1:c.515A>T, NP_005475.2:p.Lys185Arg, NP_005475.2:p.Lys185Ile, NP_001036083.1:p.Lys172Arg, NP_001036083.1:p.Lys172Ile, XP_005267304.1:p.Lys185Arg, XP_005267304.1:p.Lys185Ile, XP_016876401.1:p.Lys172Arg, XP_016876401.1:p.Lys172Ile

Select item 145394484815.

rs1453944848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20357056 (GRCh38)
14:20825215 (GRCh37)
Canonical SPDI:: NC_000014.9:20357055:G:A
Gene:: PARP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20357056G>A, NG_033959.1:g.18443G>A, NM_005484.4:c.1374G>A, NM_005484.3:c.1374G>A, NM_001042618.2:c.1335G>A, NM_001042618.1:c.1335G>A, NW_025791796.1:g.559737G>A, NC_000014.8:g.20825215G>A, XM_005267247.4:c.1374G>A, XM_005267247.3:c.1374G>A, XM_005267247.2:c.1374G>A, XM_005267247.1:c.1374G>A, XM_017020912.2:c.1335G>A, XM_017020912.1:c.1335G>A, XM_047430869.1:c.480G>A

Select item 145368572916.

rs1453685729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20354126 (GRCh38)
14:20822285 (GRCh37)
Canonical SPDI:: NC_000014.9:20354125:C:G,NC_000014.9:20354125:C:T
Gene:: PARP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.20354126C>G, NC_000014.9:g.20354126C>T, NG_033959.1:g.15513C>G, NG_033959.1:g.15513C>T, NM_005484.4:c.681C>G, NM_005484.4:c.681C>T, NM_005484.3:c.681C>G, NM_005484.3:c.681C>T, NM_001042618.2:c.642C>G, NM_001042618.2:c.642C>T, NM_001042618.1:c.642C>G, NM_001042618.1:c.642C>T, NW_025791796.1:g.556807C>G, NW_025791796.1:g.556807C>T, NC_000014.8:g.20822285C>G, NC_000014.8:g.20822285C>T, XM_005267247.4:c.681C>G, XM_005267247.4:c.681C>T, XM_005267247.3:c.681C>G, XM_005267247.3:c.681C>T, XM_005267247.2:c.681C>G, XM_005267247.2:c.681C>T, XM_005267247.1:c.681C>G, XM_005267247.1:c.681C>T, XM_017020912.2:c.642C>G, XM_017020912.2:c.642C>T, XM_017020912.1:c.642C>G, XM_017020912.1:c.642C>T

Select item 145230932017.

rs1452309320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20350565 (GRCh38)
14:20818724 (GRCh37)
Canonical SPDI:: NC_000014.9:20350564:C:T
Gene:: PARP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20350565C>T, NG_033959.1:g.11952C>T, NM_005484.4:c.403C>T, NM_005484.3:c.403C>T, NM_001042618.2:c.364C>T, NM_001042618.1:c.364C>T, NW_025791796.1:g.553246C>T, NC_000014.8:g.20818724C>T, XM_005267247.4:c.403C>T, XM_005267247.3:c.403C>T, XM_005267247.2:c.403C>T, XM_005267247.1:c.403C>T, XM_017020912.2:c.364C>T, XM_017020912.1:c.364C>T, NP_005475.2:p.Gln135Ter, NP_001036083.1:p.Gln122Ter, XP_005267304.1:p.Gln135Ter, XP_016876401.1:p.Gln122Ter

Select item 145120091818.

rs1451200918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:20354823 (GRCh38)
14:20822982 (GRCh37)
Canonical SPDI:: NC_000014.9:20354822:G:C
Gene:: PARP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20354823G>C, NG_033959.1:g.16210G>C, NM_005484.4:c.817G>C, NM_005484.3:c.817G>C, NM_001042618.2:c.778G>C, NM_001042618.1:c.778G>C, NW_025791796.1:g.557504G>C, NC_000014.8:g.20822982G>C, XM_005267247.4:c.817G>C, XM_005267247.3:c.817G>C, XM_005267247.2:c.817G>C, XM_005267247.1:c.817G>C, XM_017020912.2:c.778G>C, XM_017020912.1:c.778G>C, NP_005475.2:p.Ala273Pro, NP_001036083.1:p.Ala260Pro, XP_005267304.1:p.Ala273Pro, XP_016876401.1:p.Ala260Pro

Select item 144869073319.

rs1448690733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20343654 (GRCh38)
14:20811813 (GRCh37)
Canonical SPDI:: NC_000014.9:20343653:C:G,NC_000014.9:20343653:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20343654C>G, NC_000014.9:g.20343654C>T, NG_033959.1:g.5041C>G, NG_033959.1:g.5041C>T, NM_005484.4:c.13C>G, NM_005484.4:c.13C>T, NM_005484.3:c.13C>G, NM_005484.3:c.13C>T, NM_001042618.2:c.13C>G, NM_001042618.2:c.13C>T, NM_001042618.1:c.13C>G, NM_001042618.1:c.13C>T, NW_025791796.1:g.546335C>G, NW_025791796.1:g.546335C>T, NC_000014.8:g.20811813C>G, NC_000014.8:g.20811813C>T, XM_005267247.4:c.13C>G, XM_005267247.4:c.13C>T, XM_005267247.3:c.13C>G, XM_005267247.3:c.13C>T, XM_005267247.2:c.13C>G, XM_005267247.2:c.13C>T, XM_005267247.1:c.13C>G, XM_005267247.1:c.13C>T, XM_017020912.2:c.13C>G, XM_017020912.2:c.13C>T, XM_017020912.1:c.13C>G, XM_017020912.1:c.13C>T, NP_005475.2:p.Arg5Gly, NP_005475.2:p.Arg5Trp, NP_001036083.1:p.Arg5Gly, NP_001036083.1:p.Arg5Trp, XP_005267304.1:p.Arg5Gly, XP_005267304.1:p.Arg5Trp, XP_016876401.1:p.Arg5Gly, XP_016876401.1:p.Arg5Trp

Select item 144760875320.

rs1447608753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:20344985 (GRCh38)
14:20813144 (GRCh37)
Canonical SPDI:: NC_000014.9:20344984:T:C
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.20344985T>C, NG_033959.1:g.6372T>C, NM_005484.4:c.100T>C, NM_005484.3:c.100T>C, NM_001042618.2:c.100T>C, NM_001042618.1:c.100T>C, NW_025791796.1:g.547666T>C, NC_000014.8:g.20813144T>C, XM_005267247.4:c.100T>C, XM_005267247.3:c.100T>C, XM_005267247.2:c.100T>C, XM_005267247.1:c.100T>C, XM_017020912.2:c.100T>C, XM_017020912.1:c.100T>C, NP_005475.2:p.Ser34Pro, NP_001036083.1:p.Ser34Pro, XP_005267304.1:p.Ser34Pro, XP_016876401.1:p.Ser34Pro

dbSNP

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