Canonical Allele Identifier: CA378121009

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101590187G>T (hg19) ; chr10:g.99830430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830430G>T , CM000672.2:g.99830430G>T	GRCh38
NC_000010.10:g.101590187G>T , CM000672.1:g.101590187G>T	GRCh37
NC_000010.9:g.101580177G>T	NCBI36
NG_011798.1:g.52725G>T
NG_011798.2:g.52833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2744G>T MANE Select	ENSP00000497274.1:p.Arg915Leu
ENST00000370449.8:c.2744G>T	ENSP00000359478.4:p.Arg915Leu
NM_000392.4:c.2744G>T	NP_000383.1:p.Arg915Leu
XM_006717630.2:c.2048G>T	XP_006717693.1:p.Arg683Leu
XM_011539291.1:c.2744G>T	XP_011537593.1:p.Arg915Leu
XR_945604.1:n.2933G>T
XR_945605.1:n.2935G>T
NM_000392.5:c.2744G>T MANE Select	NP_000383.2:p.Arg915Leu
XM_006717630.3:c.2048G>T	XP_006717693.1:p.Arg683Leu
XM_011539291.3:c.2744G>T	XP_011537593.1:p.Arg915Leu
XR_945604.3:n.2987G>T
XR_945605.3:n.2987G>T