Canonical Allele Identifier: CA212867157

Gene: ABCC2

Linked Data

• dbSNP Id: rs4148400
• gnomAD v3: 10-99844373-A-C
• gnomAD v4: 10-99844373-A-C
• MyVariant Identifiers: chr10:g.101604130A>C (hg19) ; chr10:g.99844373A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844373A>C , CM000672.2:g.99844373A>C	GRCh38
NC_000010.10:g.101604130A>C , CM000672.1:g.101604130A>C	GRCh37
NC_000010.9:g.101594120A>C	NCBI36
NG_011798.1:g.66668A>C
NG_011798.2:g.66776A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3895A>C MANE Select	ENSP00000497274.1:p.Lys1299Gln
ENST00000649459.1:n.243A>C
ENST00000370449.8:c.3895A>C	ENSP00000359478.4:p.Lys1299Gln
NM_000392.4:c.3895A>C	NP_000383.1:p.Lys1299Gln
XM_006717630.2:c.3199A>C	XP_006717693.1:p.Lys1067Gln
XR_945604.1:n.4084A>C
XR_945605.1:n.3959A>C
NM_000392.5:c.3895A>C MANE Select	NP_000383.2:p.Lys1299Gln
XM_006717630.3:c.3199A>C	XP_006717693.1:p.Lys1067Gln
XR_945604.3:n.4138A>C
XR_945605.3:n.4011A>C