Canonical Allele Identifier: CA13312151
Gene: ABCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.99832187T>C
GRCh37 chr10:g.101591944T>C
gnomAD v2:
10:101591944 T / C
gnomAD v3:
10:99832187 T / C
gnomAD v4:
chr10-99832187-T-C
Joint Max Group AF 0.76891505 (EAS)
Genomes Max Group AF 0.75889721 (EAS)
Exomes Max Group AF 0.76806504 (EAS)
ClinVar RCV:
RCV001549150
RCV001694095
ClinVar Variation:
1188977
dbSNP:
4148396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99832187T>C , CM000672.2:g.99832187T>C GRCh38
NC_000010.10:g.101591944T>C , CM000672.1:g.101591944T>C GRCh37
NC_000010.9:g.101581934T>C NCBI36
NG_011798.1:g.54482T>C
NG_011798.2:g.54590T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3258+56T>C MANE Select ENSP00000497274.1:n.3258+56T>C
ENST00000370449.8:c.3258+56T>C ENSP00000359478.4:n.3258+56T>C
NM_000392.4:c.3258+56T>C NP_000383.1:n.3258+56T>C
XM_006717630.2:c.2562+56T>C XP_006717693.1:n.2562+56T>C
XR_945604.1:n.3447+56T>C
XR_945605.1:n.3449+56T>C
NM_000392.5:c.3258+56T>C MANE Select NP_000383.2:n.3258+56T>C
XM_006717630.3:c.2562+56T>C XP_006717693.1:n.2562+56T>C
XR_945604.3:n.3501+56T>C
XR_945605.3:n.3501+56T>C
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