Canonical Allele Identifier: CA378126654

Gene: ABCC2

Linked Data

• dbSNP Id: rs1564701000
• gnomAD v2: 10-101604088-G-C
• gnomAD v4: 10-99844331-G-C
• MyVariant Identifiers: chr10:g.101604088G>C (hg19) ; chr10:g.99844331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844331G>C , CM000672.2:g.99844331G>C	GRCh38
NC_000010.10:g.101604088G>C , CM000672.1:g.101604088G>C	GRCh37
NC_000010.9:g.101594078G>C	NCBI36
NG_011798.1:g.66626G>C
NG_011798.2:g.66734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3853G>C MANE Select	ENSP00000497274.1:p.Val1285Leu
ENST00000649459.1:n.201G>C
ENST00000370449.8:c.3853G>C	ENSP00000359478.4:p.Val1285Leu
NM_000392.4:c.3853G>C	NP_000383.1:p.Val1285Leu
XM_006717630.2:c.3157G>C	XP_006717693.1:p.Val1053Leu
XR_945604.1:n.4042G>C
XR_945605.1:n.3917G>C
NM_000392.5:c.3853G>C MANE Select	NP_000383.2:p.Val1285Leu
XM_006717630.3:c.3157G>C	XP_006717693.1:p.Val1053Leu
XR_945604.3:n.4096G>C
XR_945605.3:n.3969G>C