Canonical Allele Identifier: CA5643648
Gene: ABCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.99831661G>A
GRCh37 chr10:g.101591418G>A
gnomAD v2:
10:101591418 G / A
gnomAD v3:
10:99831661 G / A
gnomAD v4:
chr10-99831661-G-A
Joint Max Group AF 0.03371789 (EAS)
Genomes Max Group AF 0.02464988 (EAS)
Exomes Max Group AF 0.03449222 (EAS)
ClinVar RCV:
RCV000908061
RCV001103981
ClinVar Variation:
732860
dbSNP:
3740070
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99831661G>A , CM000672.2:g.99831661G>A GRCh38
NC_000010.10:g.101591418G>A , CM000672.1:g.101591418G>A GRCh37
NC_000010.9:g.101581408G>A NCBI36
NG_011798.1:g.53956G>A
NG_011798.2:g.54064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2934G>A MANE Select ENSP00000497274.1:p.Ser978=
ENST00000370449.8:c.2934G>A ENSP00000359478.4:p.Ser978=
NM_000392.4:c.2934G>A NP_000383.1:p.Ser978=
XM_006717630.2:c.2238G>A XP_006717693.1:p.Ser746=
XM_011539291.1:c.*47G>A XP_011537593.1:n.*47G>A
XR_945604.1:n.3123G>A
XR_945605.1:n.3125G>A
NM_000392.5:c.2934G>A MANE Select NP_000383.2:p.Ser978=
XM_006717630.3:c.2238G>A XP_006717693.1:p.Ser746=
XM_011539291.3:c.*47G>A XP_011537593.1:n.*47G>A
XR_945604.3:n.3177G>A
XR_945605.3:n.3177G>A
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