SNP Links for Protein (Select 531990811) - SNP

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Links from Protein

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Select item 14780689231.

rs1478068923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119575387 (GRCh38)
X:118709350 (GRCh37)
Canonical SPDI:: NC_000023.11:119575386:C:T
Gene:: UBE2A (Varview), LOC124905208 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119575387C>T, NC_000023.10:g.118709350C>T, NG_009267.1:g.5852C>T, NM_003336.4:c.138C>T, NM_003336.3:c.138C>T, NM_003336.2:c.138C>T, NM_181762.3:c.138C>T, NM_181762.2:c.138C>T, NM_181762.1:c.138C>T, NM_001282161.2:c.39C>T, NM_001282161.1:c.39C>T, NW_025791817.1:g.26388C>T

Select item 13795527372.

rs1379552737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:119583225 (GRCh38)
X:118717188 (GRCh37)
Canonical SPDI:: NC_000023.11:119583224:A:T
Gene:: UBE2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000045/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000023.11:g.119583225A>T, NC_000023.10:g.118717188A>T, NG_009267.1:g.13690A>T, NM_003336.4:c.429A>T, NM_003336.3:c.429A>T, NM_003336.2:c.429A>T, NM_181762.3:c.339A>T, NM_181762.2:c.339A>T, NM_181762.1:c.339A>T, NM_001282161.2:c.330A>T, NM_001282161.1:c.330A>T, NW_025791817.1:g.34226A>T, NM_181777.1:c.204A>T

Select item 13325068513.

rs1332506851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119583252 (GRCh38)
X:118717215 (GRCh37)
Canonical SPDI:: NC_000023.11:119583251:T:C
Gene:: UBE2A (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119583252T>C, NC_000023.10:g.118717215T>C, NG_009267.1:g.13717T>C, NM_003336.4:c.456T>C, NM_003336.3:c.456T>C, NM_003336.2:c.456T>C, NM_181762.3:c.366T>C, NM_181762.2:c.366T>C, NM_181762.1:c.366T>C, NM_001282161.2:c.357T>C, NM_001282161.1:c.357T>C, NW_025791817.1:g.34253T>C, NM_181777.1:c.231T>C

Select item 12405614404.

rs1240561440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119583165 (GRCh38)
X:118717128 (GRCh37)
Canonical SPDI:: NC_000023.11:119583164:C:T
Gene:: UBE2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119583165C>T, NC_000023.10:g.118717128C>T, NG_009267.1:g.13630C>T, NM_003336.4:c.369C>T, NM_003336.3:c.369C>T, NM_003336.2:c.369C>T, NM_181762.3:c.279C>T, NM_181762.2:c.279C>T, NM_181762.1:c.279C>T, NM_001282161.2:c.270C>T, NM_001282161.1:c.270C>T, NW_025791817.1:g.34166C>T, NM_181777.1:c.144C>T

Select item 12003175895.

rs1200317589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:119581562 (GRCh38)
X:118715525 (GRCh37)
Canonical SPDI:: NC_000023.11:119581561:A:T
Gene:: UBE2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119581562A>T, NC_000023.10:g.118715525A>T, NG_009267.1:g.12027A>T, NM_003336.4:c.207A>T, NM_003336.3:c.207A>T, NM_003336.2:c.207A>T, NM_001282161.2:c.108A>T, NM_001282161.1:c.108A>T, NW_025791817.1:g.32563A>T, NM_181777.1:c.-19A>T

Select item 11937557456.

rs1193755745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119582659 (GRCh38)
X:118716622 (GRCh37)
Canonical SPDI:: NC_000023.11:119582658:A:G
Gene:: UBE2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.119582659A>G, NC_000023.10:g.118716622A>G, NG_009267.1:g.13124A>G, NM_003336.4:c.313A>G, NM_003336.3:c.313A>G, NM_003336.2:c.313A>G, NM_181762.3:c.223A>G, NM_181762.2:c.223A>G, NM_181762.1:c.223A>G, NM_001282161.2:c.214A>G, NM_001282161.1:c.214A>G, NW_025791817.1:g.33660A>G, NM_181777.1:c.88A>G, NP_003327.2:p.Ile105Val, NP_861427.1:p.Ile75Val, NP_001269090.1:p.Ile72Val

Select item 11592926517.

rs1159292651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119583244 (GRCh38)
X:118717207 (GRCh37)
Canonical SPDI:: NC_000023.11:119583243:C:T
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.119583244C>T, NC_000023.10:g.118717207C>T, NG_009267.1:g.13709C>T, NM_003336.4:c.448C>T, NM_003336.3:c.448C>T, NM_003336.2:c.448C>T, NM_181762.3:c.358C>T, NM_181762.2:c.358C>T, NM_181762.1:c.358C>T, NM_001282161.2:c.349C>T, NM_001282161.1:c.349C>T, NW_025791817.1:g.34245C>T, NM_181777.1:c.223C>T, NP_003327.2:p.Arg150Cys, NP_861427.1:p.Arg120Cys, NP_001269090.1:p.Arg117Cys

Select item 11316913328.

rs1131691332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119581596 (GRCh38)
X:118715559 (GRCh37)
Canonical SPDI:: NC_000023.11:119581595:G:A
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000023.11:g.119581596G>A, NC_000023.10:g.118715559G>A, NG_009267.1:g.12061G>A, NM_003336.4:c.241G>A, NM_003336.3:c.241G>A, NM_003336.2:c.241G>A, NM_001282161.2:c.142G>A, NM_001282161.1:c.142G>A, NW_025791817.1:g.32597G>A, NM_181777.1:c.16G>A, NP_003327.2:p.Val81Ile, NP_001269090.1:p.Val48Ile

Select item 10382185929.

rs1038218592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:119581544 (GRCh38)
X:118715507 (GRCh37)
Canonical SPDI:: NC_000023.11:119581543:T:C,NC_000023.11:119581543:T:G
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119581544T>C, NC_000023.11:g.119581544T>G, NC_000023.10:g.118715507T>C, NC_000023.10:g.118715507T>G, NG_009267.1:g.12009T>C, NG_009267.1:g.12009T>G, NM_003336.4:c.189T>C, NM_003336.4:c.189T>G, NM_003336.3:c.189T>C, NM_003336.3:c.189T>G, NM_003336.2:c.189T>C, NM_003336.2:c.189T>G, NM_001282161.2:c.90T>C, NM_001282161.2:c.90T>G, NM_001282161.1:c.90T>C, NM_001282161.1:c.90T>G, NW_025791817.1:g.32545T>C, NW_025791817.1:g.32545T>G, NM_181777.1:c.-37T>C, NM_181777.1:c.-37T>G, NP_003327.2:p.Tyr63Ter, NP_001269090.1:p.Tyr30Ter

Select item 103421785310.

rs1034217853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119583138 (GRCh38)
X:118717101 (GRCh37)
Canonical SPDI:: NC_000023.11:119583137:T:C
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119583138T>C, NC_000023.10:g.118717101T>C, NG_009267.1:g.13603T>C, NM_003336.4:c.342T>C, NM_003336.3:c.342T>C, NM_003336.2:c.342T>C, NM_181762.3:c.252T>C, NM_181762.2:c.252T>C, NM_181762.1:c.252T>C, NM_001282161.2:c.243T>C, NM_001282161.1:c.243T>C, NW_025791817.1:g.34139T>C, NM_181777.1:c.117T>C

Select item 95834664411.

rs958346644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119582631 (GRCh38)
X:118716594 (GRCh37)
Canonical SPDI:: NC_000023.11:119582630:T:C
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.119582631T>C, NC_000023.10:g.118716594T>C, NG_009267.1:g.13096T>C, NM_003336.4:c.285T>C, NM_003336.3:c.285T>C, NM_003336.2:c.285T>C, NM_181762.3:c.195T>C, NM_181762.2:c.195T>C, NM_181762.1:c.195T>C, NM_001282161.2:c.186T>C, NM_001282161.1:c.186T>C, NW_025791817.1:g.33632T>C, NM_181777.1:c.60T>C

Select item 95341875812.

rs953418758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119582664 (GRCh38)
X:118716627 (GRCh37)
Canonical SPDI:: NC_000023.11:119582663:A:G
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119582664A>G, NC_000023.10:g.118716627A>G, NG_009267.1:g.13129A>G, NM_003336.4:c.318A>G, NM_003336.3:c.318A>G, NM_003336.2:c.318A>G, NM_181762.3:c.228A>G, NM_181762.2:c.228A>G, NM_181762.1:c.228A>G, NM_001282161.2:c.219A>G, NM_001282161.1:c.219A>G, NW_025791817.1:g.33665A>G, NM_181777.1:c.93A>G

Select item 92177814813.

rs921778148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119581549 (GRCh38)
X:118715512 (GRCh37)
Canonical SPDI:: NC_000023.11:119581548:A:G
Gene:: UBE2A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.119581549A>G, NC_000023.10:g.118715512A>G, NG_009267.1:g.12014A>G, NM_003336.4:c.194A>G, NM_003336.3:c.194A>G, NM_003336.2:c.194A>G, NM_001282161.2:c.95A>G, NM_001282161.1:c.95A>G, NW_025791817.1:g.32550A>G, NM_181777.1:c.-32A>G, NP_003327.2:p.Asn65Ser, NP_001269090.1:p.Asn32Ser

Select item 89938436614.

rs899384366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:119583137 (GRCh38)
X:118717100 (GRCh37)
Canonical SPDI:: NC_000023.11:119583136:A:T
Gene:: UBE2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.119583137A>T, NC_000023.10:g.118717100A>T, NG_009267.1:g.13602A>T, NM_003336.4:c.341A>T, NM_003336.3:c.341A>T, NM_003336.2:c.341A>T, NM_181762.3:c.251A>T, NM_181762.2:c.251A>T, NM_181762.1:c.251A>T, NM_001282161.2:c.242A>T, NM_001282161.1:c.242A>T, NW_025791817.1:g.34138A>T, NM_181777.1:c.116A>T, NP_003327.2:p.Asp114Val, NP_861427.1:p.Asp84Val, NP_001269090.1:p.Asp81Val

Select item 86849335215.

rs868493352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119582628 (GRCh38)
X:118716591 (GRCh37)
Canonical SPDI:: NC_000023.11:119582627:C:T
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.119582628C>T, NC_000023.10:g.118716591C>T, NG_009267.1:g.13093C>T, NM_003336.4:c.282C>T, NM_003336.3:c.282C>T, NM_003336.2:c.282C>T, NM_181762.3:c.192C>T, NM_181762.2:c.192C>T, NM_181762.1:c.192C>T, NM_001282161.2:c.183C>T, NM_001282161.1:c.183C>T, NW_025791817.1:g.33629C>T, NM_181777.1:c.57C>T

Select item 86777846716.

rs867778467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119575384 (GRCh38)
X:118709347 (GRCh37)
Canonical SPDI:: NC_000023.11:119575383:G:A
Gene:: UBE2A (Varview), LOC124905208 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000023.11:g.119575384G>A, NC_000023.10:g.118709347G>A, NG_009267.1:g.5849G>A, NM_003336.4:c.135G>A, NM_003336.3:c.135G>A, NM_003336.2:c.135G>A, NM_181762.3:c.135G>A, NM_181762.2:c.135G>A, NM_181762.1:c.135G>A, NM_001282161.2:c.36G>A, NM_001282161.1:c.36G>A, NW_025791817.1:g.26385G>A

Select item 86601925517.

rs866019255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:119583135 (GRCh38)
X:118717098 (GRCh37)
Canonical SPDI:: NC_000023.11:119583134:G:T
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.119583135G>T, NC_000023.10:g.118717098G>T, NG_009267.1:g.13600G>T, NM_003336.4:c.339G>T, NM_003336.3:c.339G>T, NM_003336.2:c.339G>T, NM_181762.3:c.249G>T, NM_181762.2:c.249G>T, NM_181762.1:c.249G>T, NM_001282161.2:c.240G>T, NM_001282161.1:c.240G>T, NW_025791817.1:g.34136G>T, NM_181777.1:c.114G>T, NP_003327.2:p.Leu113Phe, NP_861427.1:p.Leu83Phe, NP_001269090.1:p.Leu80Phe

Select item 77652525818.

rs776525258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:119575390 (GRCh38)
X:118709353 (GRCh37)
Canonical SPDI:: NC_000023.11:119575389:G:A,NC_000023.11:119575389:G:T
Gene:: UBE2A (Varview), LOC124905208 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119575390G>A, NC_000023.11:g.119575390G>T, NC_000023.10:g.118709353G>A, NC_000023.10:g.118709353G>T, NG_009267.1:g.5855G>A, NG_009267.1:g.5855G>T, NM_003336.4:c.141G>A, NM_003336.4:c.141G>T, NM_003336.3:c.141G>A, NM_003336.3:c.141G>T, NM_003336.2:c.141G>A, NM_003336.2:c.141G>T, NM_181762.3:c.141G>A, NM_181762.3:c.141G>T, NM_181762.2:c.141G>A, NM_181762.2:c.141G>T, NM_181762.1:c.141G>A, NM_181762.1:c.141G>T, NM_001282161.2:c.42G>A, NM_001282161.2:c.42G>T, NM_001282161.1:c.42G>A, NM_001282161.1:c.42G>T, NW_025791817.1:g.26391G>A, NW_025791817.1:g.26391G>T

Select item 77378473319.

rs773784733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119583132 (GRCh38)
X:118717095 (GRCh37)
Canonical SPDI:: NC_000023.11:119583131:G:A
Gene:: UBE2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000011/1 (ExAC)
A=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119583132G>A, NC_000023.10:g.118717095G>A, NG_009267.1:g.13597G>A, NM_003336.4:c.336G>A, NM_003336.3:c.336G>A, NM_003336.2:c.336G>A, NM_181762.3:c.246G>A, NM_181762.2:c.246G>A, NM_181762.1:c.246G>A, NM_001282161.2:c.237G>A, NM_001282161.1:c.237G>A, NW_025791817.1:g.34133G>A, NM_181777.1:c.111G>A

Select item 77236837620.

rs772368376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:119581586 (GRCh38)
X:118715549 (GRCh37)
Canonical SPDI:: NC_000023.11:119581585:C:A,NC_000023.11:119581585:C:T
Gene:: UBE2A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.000011/1 (ExAC)
HGVS:: NC_000023.11:g.119581586C>A, NC_000023.11:g.119581586C>T, NC_000023.10:g.118715549C>A, NC_000023.10:g.118715549C>T, NG_009267.1:g.12051C>A, NG_009267.1:g.12051C>T, NM_003336.4:c.231C>A, NM_003336.4:c.231C>T, NM_003336.3:c.231C>A, NM_003336.3:c.231C>T, NM_003336.2:c.231C>A, NM_003336.2:c.231C>T, NM_001282161.2:c.132C>A, NM_001282161.2:c.132C>T, NM_001282161.1:c.132C>A, NM_001282161.1:c.132C>T, NW_025791817.1:g.32587C>A, NW_025791817.1:g.32587C>T, NM_181777.1:c.6C>A, NM_181777.1:c.6C>T, NP_003327.2:p.Phe77Leu, NP_001269090.1:p.Phe44Leu

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SNP Links for Protein (Select 531990811) (34)
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