SNP Links for Protein (Select 281182727) - SNP

Links from Protein

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Select item 14909047681.

rs1490904768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:50523740 (GRCh38)
22:50962169 (GRCh37)
Canonical SPDI:: NC_000022.11:50523739:G:C,NC_000022.11:50523739:G:T
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.50523740G>C, NC_000022.11:g.50523740G>T, NC_000022.10:g.50962169G>C, NC_000022.10:g.50962169G>T, NG_021419.1:g.20525G>C, NG_021419.1:g.20525G>T, NM_152299.4:c.*365G>C, NM_152299.4:c.*365G>T, NM_152299.3:c.*365G>C, NM_152299.3:c.*365G>T, NM_001185011.2:c.*365G>C, NM_001185011.2:c.*365G>T, NM_001185011.1:c.*365G>C, NM_001185011.1:c.*365G>T, NG_016235.1:g.7700C>G, NG_016235.1:g.7700C>A, NM_005138.3:c.672C>G, NM_005138.3:c.672C>A, NM_005138.2:c.672C>G, NM_005138.2:c.672C>A, NM_001169109.2:c.672C>G, NM_001169109.2:c.672C>A, NM_001169109.1:c.672C>G, NM_001169109.1:c.672C>A, NM_001169111.2:c.672C>G, NM_001169111.2:c.672C>A, NM_001169111.1:c.672C>G, NM_001169111.1:c.672C>A, NM_001169110.1:c.672C>G, NM_001169110.1:c.672C>A, XM_005261912.5:c.*365G>C, XM_005261912.5:c.*365G>T, XM_017028793.3:c.*365G>C, XM_017028793.3:c.*365G>T, XM_011530685.3:c.*365G>C, XM_011530685.3:c.*365G>T, XM_047441352.1:c.*365G>C, XM_047441352.1:c.*365G>T, XM_047441353.1:c.*365G>C, XM_047441353.1:c.*365G>T, XM_047441354.1:c.*365G>C, XM_047441354.1:c.*365G>T, NP_005129.2:p.His224Gln, NP_005129.2:p.His224Gln, NP_001162580.1:p.His224Gln, NP_001162580.1:p.His224Gln, NP_001162582.1:p.His224Gln, NP_001162582.1:p.His224Gln, NP_001162581.1:p.His224Gln, NP_001162581.1:p.His224Gln

Select item 14839329612.

rs1483932961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50524364 (GRCh38)
22:50962793 (GRCh37)
Canonical SPDI:: NC_000022.11:50524363:C:G,NC_000022.11:50524363:C:T
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50524364C>G, NC_000022.11:g.50524364C>T, NC_000022.10:g.50962793C>G, NC_000022.10:g.50962793C>T, NG_021419.1:g.21149C>G, NG_021419.1:g.21149C>T, NM_152299.4:c.*989C>G, NM_152299.4:c.*989C>T, NM_152299.3:c.*989C>G, NM_152299.3:c.*989C>T, NM_001185011.2:c.*989C>G, NM_001185011.2:c.*989C>T, NM_001185011.1:c.*989C>G, NM_001185011.1:c.*989C>T, NG_011860.1:g.10722G>C, NG_011860.1:g.10722G>A, NG_016235.1:g.7076G>C, NG_016235.1:g.7076G>A, NM_005138.3:c.48G>C, NM_005138.3:c.48G>A, NM_005138.2:c.48G>C, NM_005138.2:c.48G>A, NM_001169109.2:c.48G>C, NM_001169109.2:c.48G>A, NM_001169109.1:c.48G>C, NM_001169109.1:c.48G>A, NM_001169111.2:c.48G>C, NM_001169111.2:c.48G>A, NM_001169111.1:c.48G>C, NM_001169111.1:c.48G>A, NM_001169110.1:c.48G>C, NM_001169110.1:c.48G>A, XM_005261912.5:c.*989C>G, XM_005261912.5:c.*989C>T, XM_017028793.3:c.*989C>G, XM_017028793.3:c.*989C>T, XM_011530685.3:c.*989C>G, XM_011530685.3:c.*989C>T, XM_047441352.1:c.*989C>G, XM_047441352.1:c.*989C>T, XM_047441353.1:c.*989C>G, XM_047441353.1:c.*989C>T, XM_047441354.1:c.*989C>G, XM_047441354.1:c.*989C>T, NP_005129.2:p.Gln16His, NP_001162580.1:p.Gln16His, NP_001162582.1:p.Gln16His, NP_001162581.1:p.Gln16His

Select item 14831058763.

rs1483105876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50523865 (GRCh38)
22:50962294 (GRCh37)
Canonical SPDI:: NC_000022.11:50523864:C:T
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.50523865C>T, NC_000022.10:g.50962294C>T, NG_021419.1:g.20650C>T, NM_152299.4:c.*490C>T, NM_152299.3:c.*490C>T, NM_001185011.2:c.*490C>T, NM_001185011.1:c.*490C>T, NG_011860.1:g.11221G>A, NG_016235.1:g.7575G>A, NM_005138.3:c.547G>A, NM_005138.2:c.547G>A, NM_001169109.2:c.547G>A, NM_001169109.1:c.547G>A, NM_001169111.2:c.547G>A, NM_001169111.1:c.547G>A, NM_001169110.1:c.547G>A, XM_005261912.5:c.*490C>T, XM_017028793.3:c.*490C>T, XM_011530685.3:c.*490C>T, XM_047441352.1:c.*490C>T, XM_047441353.1:c.*490C>T, XM_047441354.1:c.*490C>T, NP_005129.2:p.Asp183Asn, NP_001162580.1:p.Asp183Asn, NP_001162582.1:p.Asp183Asn, NP_001162581.1:p.Asp183Asn

Select item 14816618784.

rs1481661878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50523694 (GRCh38)
22:50962123 (GRCh37)
Canonical SPDI:: NC_000022.11:50523693:A:G
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000022.11:g.50523694A>G, NC_000022.10:g.50962123A>G, NG_021419.1:g.20479A>G, NM_152299.4:c.*319A>G, NM_152299.3:c.*319A>G, NM_001185011.2:c.*319A>G, NM_001185011.1:c.*319A>G, NG_016235.1:g.7746T>C, NM_005138.3:c.718T>C, NM_005138.2:c.718T>C, NM_001169109.2:c.718T>C, NM_001169109.1:c.718T>C, NM_001169111.2:c.718T>C, NM_001169111.1:c.718T>C, NM_001169110.1:c.718T>C, XM_005261912.5:c.*319A>G, XM_017028793.3:c.*319A>G, XM_011530685.3:c.*319A>G, XM_047441352.1:c.*319A>G, XM_047441353.1:c.*319A>G, XM_047441354.1:c.*319A>G, NP_005129.2:p.Tyr240His, NP_001162580.1:p.Tyr240His, NP_001162582.1:p.Tyr240His, NP_001162581.1:p.Tyr240His

Select item 14806234815.

rs1480623481 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTCAGGGCAG [Show Flanks]
Chromosome:: 22:50523998 (GRCh38)
22:50962428 (GRCh37)
Canonical SPDI:: NC_000022.11:50523998:GGGCAGATGTCAGGGCAG:GGGCAGATGTCAGGGCAGATGTCAGGGCAG
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,inframe_insertion
Validated:: by frequency
MAF:: GGGCAGATGTCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50524005_50524016dup, NC_000022.10:g.50962434_50962445dup, NG_021419.1:g.20790_20801dup, NM_152299.4:c.*630_*641dup, NM_152299.3:c.*630_*641dup, NM_001185011.2:c.*630_*641dup, NM_001185011.1:c.*630_*641dup, NG_011860.1:g.11076_11087dup, NG_016235.1:g.7430_7441dup, NM_005138.3:c.402_413dup, NM_005138.2:c.402_413dup, NM_001169109.2:c.402_413dup, NM_001169109.1:c.402_413dup, NM_001169111.2:c.402_413dup, NM_001169111.1:c.402_413dup, NM_001169110.1:c.402_413dup, XM_005261912.5:c.*630_*641dup, XM_017028793.3:c.*630_*641dup, XM_011530685.3:c.*630_*641dup, XM_047441352.1:c.*630_*641dup, XM_047441353.1:c.*630_*641dup, XM_047441354.1:c.*630_*641dup, NP_005129.2:p.Ile136_Asp139dup, NP_001162580.1:p.Ile136_Asp139dup, NP_001162582.1:p.Ile136_Asp139dup, NP_001162581.1:p.Ile136_Asp139dup

Select item 14796159196.

rs1479615919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50523993 (GRCh38)
22:50962422 (GRCh37)
Canonical SPDI:: NC_000022.11:50523992:T:C
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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)
HGVS:: NC_000022.11:g.50523993T>C, NC_000022.10:g.50962422T>C, NG_021419.1:g.20778T>C, NM_152299.4:c.*618T>C, NM_152299.3:c.*618T>C, NM_001185011.2:c.*618T>C, NM_001185011.1:c.*618T>C, NG_011860.1:g.11093A>G, NG_016235.1:g.7447A>G, NM_005138.3:c.419A>G, NM_005138.2:c.419A>G, NM_001169109.2:c.419A>G, NM_001169109.1:c.419A>G, NM_001169111.2:c.419A>G, NM_001169111.1:c.419A>G, NM_001169110.1:c.419A>G, XM_005261912.5:c.*618T>C, XM_017028793.3:c.*618T>C, XM_011530685.3:c.*618T>C, XM_047441352.1:c.*618T>C, XM_047441353.1:c.*618T>C, XM_047441354.1:c.*618T>C, NP_005129.2:p.Glu140Gly, NP_001162580.1:p.Glu140Gly, NP_001162582.1:p.Glu140Gly, NP_001162581.1:p.Glu140Gly

Select item 14783298777.

rs1478329877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50524150 (GRCh38)
22:50962579 (GRCh37)
Canonical SPDI:: NC_000022.11:50524149:G:C
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.50524150G>C, NC_000022.10:g.50962579G>C, NG_021419.1:g.20935G>C, NM_152299.4:c.*775G>C, NM_152299.3:c.*775G>C, NM_001185011.2:c.*775G>C, NM_001185011.1:c.*775G>C, NG_011860.1:g.10936C>G, NG_016235.1:g.7290C>G, NM_005138.3:c.262C>G, NM_005138.2:c.262C>G, NM_001169109.2:c.262C>G, NM_001169109.1:c.262C>G, NM_001169111.2:c.262C>G, NM_001169111.1:c.262C>G, NM_001169110.1:c.262C>G, XM_005261912.5:c.*775G>C, XM_017028793.3:c.*775G>C, XM_011530685.3:c.*775G>C, XM_047441352.1:c.*775G>C, XM_047441353.1:c.*775G>C, XM_047441354.1:c.*775G>C, NP_005129.2:p.Gln88Glu, NP_001162580.1:p.Gln88Glu, NP_001162582.1:p.Gln88Glu, NP_001162581.1:p.Gln88Glu

Select item 14770264578.

rs1477026457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50523753 (GRCh38)
22:50962182 (GRCh37)
Canonical SPDI:: NC_000022.11:50523752:T:C
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50523753T>C, NC_000022.10:g.50962182T>C, NG_021419.1:g.20538T>C, NM_152299.4:c.*378T>C, NM_152299.3:c.*378T>C, NM_001185011.2:c.*378T>C, NM_001185011.1:c.*378T>C, NG_011860.1:g.11333A>G, NG_016235.1:g.7687A>G, NM_005138.3:c.659A>G, NM_005138.2:c.659A>G, NM_001169109.2:c.659A>G, NM_001169109.1:c.659A>G, NM_001169111.2:c.659A>G, NM_001169111.1:c.659A>G, NM_001169110.1:c.659A>G, XM_005261912.5:c.*378T>C, XM_017028793.3:c.*378T>C, XM_011530685.3:c.*378T>C, XM_047441352.1:c.*378T>C, XM_047441353.1:c.*378T>C, XM_047441354.1:c.*378T>C, NP_005129.2:p.Tyr220Cys, NP_001162580.1:p.Tyr220Cys, NP_001162582.1:p.Tyr220Cys, NP_001162581.1:p.Tyr220Cys

Select item 14756947729.

rs1475694772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50523746 (GRCh38)
22:50962175 (GRCh37)
Canonical SPDI:: NC_000022.11:50523745:C:T
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50523746C>T, NC_000022.10:g.50962175C>T, NG_021419.1:g.20531C>T, NM_152299.4:c.*371C>T, NM_152299.3:c.*371C>T, NM_001185011.2:c.*371C>T, NM_001185011.1:c.*371C>T, NG_016235.1:g.7694G>A, NM_005138.3:c.666G>A, NM_005138.2:c.666G>A, NM_001169109.2:c.666G>A, NM_001169109.1:c.666G>A, NM_001169111.2:c.666G>A, NM_001169111.1:c.666G>A, NM_001169110.1:c.666G>A, XM_005261912.5:c.*371C>T, XM_017028793.3:c.*371C>T, XM_011530685.3:c.*371C>T, XM_047441352.1:c.*371C>T, XM_047441353.1:c.*371C>T, XM_047441354.1:c.*371C>T

Select item 147125986410.

rs1471259864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50524188 (GRCh38)
22:50962617 (GRCh37)
Canonical SPDI:: NC_000022.11:50524187:C:G,NC_000022.11:50524187:C:T
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: likely-pathogenic
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_000022.11:g.50524188C>G, NC_000022.11:g.50524188C>T, NC_000022.10:g.50962617C>G, NC_000022.10:g.50962617C>T, NG_021419.1:g.20973C>G, NG_021419.1:g.20973C>T, NM_152299.4:c.*813C>G, NM_152299.4:c.*813C>T, NM_152299.3:c.*813C>G, NM_152299.3:c.*813C>T, NM_001185011.2:c.*813C>G, NM_001185011.2:c.*813C>T, NM_001185011.1:c.*813C>G, NM_001185011.1:c.*813C>T, NG_011860.1:g.10898G>C, NG_011860.1:g.10898G>A, NG_016235.1:g.7252G>C, NG_016235.1:g.7252G>A, NM_005138.3:c.224G>C, NM_005138.3:c.224G>A, NM_005138.2:c.224G>C, NM_005138.2:c.224G>A, NM_001169109.2:c.224G>C, NM_001169109.2:c.224G>A, NM_001169109.1:c.224G>C, NM_001169109.1:c.224G>A, NM_001169111.2:c.224G>C, NM_001169111.2:c.224G>A, NM_001169111.1:c.224G>C, NM_001169111.1:c.224G>A, NM_001169110.1:c.224G>C, NM_001169110.1:c.224G>A, XM_005261912.5:c.*813C>G, XM_005261912.5:c.*813C>T, XM_017028793.3:c.*813C>G, XM_017028793.3:c.*813C>T, XM_011530685.3:c.*813C>G, XM_011530685.3:c.*813C>T, XM_047441352.1:c.*813C>G, XM_047441352.1:c.*813C>T, XM_047441353.1:c.*813C>G, XM_047441353.1:c.*813C>T, XM_047441354.1:c.*813C>G, XM_047441354.1:c.*813C>T, NP_005129.2:p.Trp75Ser, NP_005129.2:p.Trp75Ter, NP_001162580.1:p.Trp75Ser, NP_001162580.1:p.Trp75Ter, NP_001162582.1:p.Trp75Ser, NP_001162582.1:p.Trp75Ter, NP_001162581.1:p.Trp75Ser, NP_001162581.1:p.Trp75Ter

Select item 147098110911.

rs1470981109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50523619 (GRCh38)
22:50962048 (GRCh37)
Canonical SPDI:: NC_000022.11:50523618:G:C
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50523619G>C, NC_000022.10:g.50962048G>C, NG_021419.1:g.20404G>C, NM_152299.4:c.*244G>C, NM_152299.3:c.*244G>C, NM_001185011.2:c.*244G>C, NM_001185011.1:c.*244G>C, NG_016235.1:g.7821C>G, NM_005138.3:c.793C>G, NM_005138.2:c.793C>G, NM_001169109.2:c.793C>G, NM_001169109.1:c.793C>G, NM_001169111.2:c.793C>G, NM_001169111.1:c.793C>G, NM_001169110.1:c.793C>G, XM_005261912.5:c.*244G>C, XM_017028793.3:c.*244G>C, XM_011530685.3:c.*244G>C, XM_047441352.1:c.*244G>C, XM_047441353.1:c.*244G>C, XM_047441354.1:c.*244G>C, NP_005129.2:p.Leu265Val, NP_001162580.1:p.Leu265Val, NP_001162582.1:p.Leu265Val, NP_001162581.1:p.Leu265Val

Select item 147075626412.

rs1470756264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50524182 (GRCh38)
22:50962611 (GRCh37)
Canonical SPDI:: NC_000022.11:50524181:G:A
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.50524182G>A, NC_000022.10:g.50962611G>A, NG_021419.1:g.20967G>A, NM_152299.4:c.*807G>A, NM_152299.3:c.*807G>A, NM_001185011.2:c.*807G>A, NM_001185011.1:c.*807G>A, NG_011860.1:g.10904C>T, NG_016235.1:g.7258C>T, NM_005138.3:c.230C>T, NM_005138.2:c.230C>T, NM_001169109.2:c.230C>T, NM_001169109.1:c.230C>T, NM_001169111.2:c.230C>T, NM_001169111.1:c.230C>T, NM_001169110.1:c.230C>T, XM_005261912.5:c.*807G>A, XM_017028793.3:c.*807G>A, XM_011530685.3:c.*807G>A, XM_047441352.1:c.*807G>A, XM_047441353.1:c.*807G>A, XM_047441354.1:c.*807G>A, NP_005129.2:p.Ala77Val, NP_001162580.1:p.Ala77Val, NP_001162582.1:p.Ala77Val, NP_001162581.1:p.Ala77Val

Select item 146925672713.

rs1469256727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:50524381 (GRCh38)
22:50962810 (GRCh37)
Canonical SPDI:: NC_000022.11:50524380:A:C,NC_000022.11:50524380:A:G
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000022.11:g.50524381A>C, NC_000022.11:g.50524381A>G, NC_000022.10:g.50962810A>C, NC_000022.10:g.50962810A>G, NG_021419.1:g.21166A>C, NG_021419.1:g.21166A>G, NM_152299.4:c.*1006A>C, NM_152299.4:c.*1006A>G, NM_152299.3:c.*1006A>C, NM_152299.3:c.*1006A>G, NM_001185011.2:c.*1006A>C, NM_001185011.2:c.*1006A>G, NM_001185011.1:c.*1006A>C, NM_001185011.1:c.*1006A>G, NG_011860.1:g.10705T>G, NG_011860.1:g.10705T>C, NG_016235.1:g.7059T>G, NG_016235.1:g.7059T>C, NM_005138.3:c.31T>G, NM_005138.3:c.31T>C, NM_005138.2:c.31T>G, NM_005138.2:c.31T>C, NM_001169109.2:c.31T>G, NM_001169109.2:c.31T>C, NM_001169109.1:c.31T>G, NM_001169109.1:c.31T>C, NM_001169111.2:c.31T>G, NM_001169111.2:c.31T>C, NM_001169111.1:c.31T>G, NM_001169111.1:c.31T>C, NM_001169110.1:c.31T>G, NM_001169110.1:c.31T>C, XM_005261912.5:c.*1006A>C, XM_005261912.5:c.*1006A>G, XM_017028793.3:c.*1006A>C, XM_017028793.3:c.*1006A>G, XM_011530685.3:c.*1006A>C, XM_011530685.3:c.*1006A>G, XM_047441352.1:c.*1006A>C, XM_047441352.1:c.*1006A>G, XM_047441353.1:c.*1006A>C, XM_047441353.1:c.*1006A>G, XM_047441354.1:c.*1006A>C, XM_047441354.1:c.*1006A>G, NP_005129.2:p.Trp11Gly, NP_005129.2:p.Trp11Arg, NP_001162580.1:p.Trp11Gly, NP_001162580.1:p.Trp11Arg, NP_001162582.1:p.Trp11Gly, NP_001162582.1:p.Trp11Arg, NP_001162581.1:p.Trp11Gly, NP_001162581.1:p.Trp11Arg

Select item 146796737514.

rs1467967375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50523720 (GRCh38)
22:50962149 (GRCh37)
Canonical SPDI:: NC_000022.11:50523719:A:G
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.50523720A>G, NC_000022.10:g.50962149A>G, NG_021419.1:g.20505A>G, NM_152299.4:c.*345A>G, NM_152299.3:c.*345A>G, NM_001185011.2:c.*345A>G, NM_001185011.1:c.*345A>G, NG_016235.1:g.7720T>C, NM_005138.3:c.692T>C, NM_005138.2:c.692T>C, NM_001169109.2:c.692T>C, NM_001169109.1:c.692T>C, NM_001169111.2:c.692T>C, NM_001169111.1:c.692T>C, NM_001169110.1:c.692T>C, XM_005261912.5:c.*345A>G, XM_017028793.3:c.*345A>G, XM_011530685.3:c.*345A>G, XM_047441352.1:c.*345A>G, XM_047441353.1:c.*345A>G, XM_047441354.1:c.*345A>G, NP_005129.2:p.Leu231Pro, NP_001162580.1:p.Leu231Pro, NP_001162582.1:p.Leu231Pro, NP_001162581.1:p.Leu231Pro

Select item 146784971815.

rs1467849718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50524351 (GRCh38)
22:50962780 (GRCh37)
Canonical SPDI:: NC_000022.11:50524350:C:T
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50524351C>T, NC_000022.10:g.50962780C>T, NG_021419.1:g.21136C>T, NM_152299.4:c.*976C>T, NM_152299.3:c.*976C>T, NM_001185011.2:c.*976C>T, NM_001185011.1:c.*976C>T, NG_011860.1:g.10735G>A, NG_016235.1:g.7089G>A, NM_005138.3:c.61G>A, NM_005138.2:c.61G>A, NM_001169109.2:c.61G>A, NM_001169109.1:c.61G>A, NM_001169111.2:c.61G>A, NM_001169111.1:c.61G>A, NM_001169110.1:c.61G>A, XM_005261912.5:c.*976C>T, XM_017028793.3:c.*976C>T, XM_011530685.3:c.*976C>T, XM_047441352.1:c.*976C>T, XM_047441353.1:c.*976C>T, XM_047441354.1:c.*976C>T, NP_005129.2:p.Val21Ile, NP_001162580.1:p.Val21Ile, NP_001162582.1:p.Val21Ile, NP_001162581.1:p.Val21Ile

Select item 146776701416.

rs1467767014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCAGCAGCC [Show Flanks]
Chromosome:: 22:50524223 (GRCh38)
22:50962653 (GRCh37)
Canonical SPDI:: NC_000022.11:50524223:ATCAGCAGCC:ATCAGCAGCCATCAGCAGCC
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: ATCAGCAGCCATCAGCAGCC=0.000071/1 (ALFA)
ATCAGCAGCC=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50524224_50524233dup, NC_000022.10:g.50962653_50962662dup, NG_021419.1:g.21009_21018dup, NM_152299.4:c.*849_*858dup, NM_152299.3:c.*849_*858dup, NM_001185011.2:c.*849_*858dup, NM_001185011.1:c.*849_*858dup, NG_011860.1:g.10853_10862dup, NG_016235.1:g.7207_7216dup, NM_005138.3:c.179_188dup, NM_005138.2:c.179_188dup, NM_001169109.2:c.179_188dup, NM_001169109.1:c.179_188dup, NM_001169111.2:c.179_188dup, NM_001169111.1:c.179_188dup, NM_001169110.1:c.179_188dup, XM_005261912.5:c.*849_*858dup, XM_017028793.3:c.*849_*858dup, XM_011530685.3:c.*849_*858dup, XM_047441352.1:c.*849_*858dup, XM_047441353.1:c.*849_*858dup, XM_047441354.1:c.*849_*858dup, NP_005129.2:p.Ile63fs, NP_001162580.1:p.Ile63fs, NP_001162582.1:p.Ile63fs, NP_001162581.1:p.Ile63fs

Select item 146501337817.

rs1465013378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50524314 (GRCh38)
22:50962743 (GRCh37)
Canonical SPDI:: NC_000022.11:50524313:A:G
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50524314A>G, NC_000022.10:g.50962743A>G, NG_021419.1:g.21099A>G, NM_152299.4:c.*939A>G, NM_152299.3:c.*939A>G, NM_001185011.2:c.*939A>G, NM_001185011.1:c.*939A>G, NG_011860.1:g.10772T>C, NG_016235.1:g.7126T>C, NM_005138.3:c.98T>C, NM_005138.2:c.98T>C, NM_001169109.2:c.98T>C, NM_001169109.1:c.98T>C, NM_001169111.2:c.98T>C, NM_001169111.1:c.98T>C, NM_001169110.1:c.98T>C, XM_005261912.5:c.*939A>G, XM_017028793.3:c.*939A>G, XM_011530685.3:c.*939A>G, XM_047441352.1:c.*939A>G, XM_047441353.1:c.*939A>G, XM_047441354.1:c.*939A>G, NP_005129.2:p.Leu33Pro, NP_001162580.1:p.Leu33Pro, NP_001162582.1:p.Leu33Pro, NP_001162581.1:p.Leu33Pro

Select item 146211482818.

rs1462114828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50523760 (GRCh38)
22:50962189 (GRCh37)
Canonical SPDI:: NC_000022.11:50523759:G:C
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50523760G>C, NC_000022.10:g.50962189G>C, NG_021419.1:g.20545G>C, NM_152299.4:c.*385G>C, NM_152299.3:c.*385G>C, NM_001185011.2:c.*385G>C, NM_001185011.1:c.*385G>C, NG_011860.1:g.11326C>G, NG_016235.1:g.7680C>G, NM_005138.3:c.652C>G, NM_005138.2:c.652C>G, NM_001169109.2:c.652C>G, NM_001169109.1:c.652C>G, NM_001169111.2:c.652C>G, NM_001169111.1:c.652C>G, NM_001169110.1:c.652C>G, XM_005261912.5:c.*385G>C, XM_017028793.3:c.*385G>C, XM_011530685.3:c.*385G>C, XM_047441352.1:c.*385G>C, XM_047441353.1:c.*385G>C, XM_047441354.1:c.*385G>C, NP_005129.2:p.Gln218Glu, NP_001162580.1:p.Gln218Glu, NP_001162582.1:p.Gln218Glu, NP_001162581.1:p.Gln218Glu

Select item 146112158619.

rs1461121586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50523789 (GRCh38)
22:50962218 (GRCh37)
Canonical SPDI:: NC_000022.11:50523788:T:C
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.50523789T>C, NC_000022.10:g.50962218T>C, NG_021419.1:g.20574T>C, NM_152299.4:c.*414T>C, NM_152299.3:c.*414T>C, NM_001185011.2:c.*414T>C, NM_001185011.1:c.*414T>C, NG_011860.1:g.11297A>G, NG_016235.1:g.7651A>G, NM_005138.3:c.623A>G, NM_005138.2:c.623A>G, NM_001169109.2:c.623A>G, NM_001169109.1:c.623A>G, NM_001169111.2:c.623A>G, NM_001169111.1:c.623A>G, NM_001169110.1:c.623A>G, XM_005261912.5:c.*414T>C, XM_017028793.3:c.*414T>C, XM_011530685.3:c.*414T>C, XM_047441352.1:c.*414T>C, XM_047441353.1:c.*414T>C, XM_047441354.1:c.*414T>C, NP_005129.2:p.Tyr208Cys, NP_001162580.1:p.Tyr208Cys, NP_001162582.1:p.Tyr208Cys, NP_001162581.1:p.Tyr208Cys

Select item 146063356820.

rs1460633568 has merged into rs763990034 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 22:50524054 (GRCh38)
22:50962483 (GRCh37)
Canonical SPDI:: NC_000022.11:50524053:GG:G,NC_000022.11:50524053:GG:GGG
Gene:: SCO2 (Varview), NCAPH2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.50524055del, NC_000022.11:g.50524055dup, NC_000022.10:g.50962484del, NC_000022.10:g.50962484dup, NG_021419.1:g.20840del, NG_021419.1:g.20840dup, NM_152299.4:c.*680del, NM_152299.4:c.*680dup, NM_152299.3:c.*680del, NM_152299.3:c.*680dup, NM_001185011.2:c.*680del, NM_001185011.2:c.*680dup, NM_001185011.1:c.*680del, NM_001185011.1:c.*680dup, NG_011860.1:g.11032del, NG_011860.1:g.11032dup, NG_016235.1:g.7386del, NG_016235.1:g.7386dup, NM_005138.3:c.358del, NM_005138.3:c.358dup, NM_005138.2:c.358del, NM_005138.2:c.358dup, NM_001169109.2:c.358del, NM_001169109.2:c.358dup, NM_001169109.1:c.358del, NM_001169109.1:c.358dup, NM_001169111.2:c.358del, NM_001169111.2:c.358dup, NM_001169111.1:c.358del, NM_001169111.1:c.358dup, NM_001169110.1:c.358del, NM_001169110.1:c.358dup, XM_005261912.5:c.*680del, XM_005261912.5:c.*680dup, XM_017028793.3:c.*680del, XM_017028793.3:c.*680dup, XM_011530685.3:c.*680del, XM_011530685.3:c.*680dup, XM_047441352.1:c.*680del, XM_047441352.1:c.*680dup, XM_047441353.1:c.*680del, XM_047441353.1:c.*680dup, XM_047441354.1:c.*680del, XM_047441354.1:c.*680dup, NP_005129.2:p.Arg120fs, NP_005129.2:p.Arg120fs, NP_001162580.1:p.Arg120fs, NP_001162580.1:p.Arg120fs, NP_001162582.1:p.Arg120fs, NP_001162582.1:p.Arg120fs, NP_001162581.1:p.Arg120fs, NP_001162581.1:p.Arg120fs

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