Canonical Allele Identifier: CA201872
Gene: ABCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.99831628C>A
GRCh37 chr10:g.101591385C>A
gnomAD v2:
10:101591385 C / A
gnomAD v3:
10:99831628 C / A
gnomAD v4:
chr10-99831628-C-A
Joint Max Group AF 0.00011211 (AFR)
Genomes Max Group AF 0.00011275 (AFR)
Exomes Max Group AF 0.00005849 (AFR)
ClinVar RCV:
RCV000176262
RCV003416080
ClinVar Variation:
195649
dbSNP:
17222547
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99831628C>A , CM000672.2:g.99831628C>A GRCh38
NC_000010.10:g.101591385C>A , CM000672.1:g.101591385C>A GRCh37
NC_000010.9:g.101581375C>A NCBI36
NG_011798.1:g.53923C>A
NG_011798.2:g.54031C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2901C>A MANE Select ENSP00000497274.1:p.Tyr967Ter
ENST00000370449.8:c.2901C>A ENSP00000359478.4:p.Tyr967Ter
NM_000392.4:c.2901C>A NP_000383.1:p.Tyr967Ter
XM_006717630.2:c.2205C>A XP_006717693.1:p.Tyr735Ter
XM_011539291.1:c.*14C>A XP_011537593.1:n.*14C>A
XR_945604.1:n.3090C>A
XR_945605.1:n.3092C>A
NM_000392.5:c.2901C>A MANE Select NP_000383.2:p.Tyr967Ter
XM_006717630.3:c.2205C>A XP_006717693.1:p.Tyr735Ter
XM_011539291.3:c.*14C>A XP_011537593.1:n.*14C>A
XR_945604.3:n.3144C>A
XR_945605.3:n.3144C>A
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