Canonical Allele Identifier: CA378126655

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101604088G>T (hg19) ; chr10:g.99844331G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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