Canonical Allele Identifier: CA378124757

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101595941T>G (hg19) ; chr10:g.99836184T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836184T>G , CM000672.2:g.99836184T>G	GRCh38
NC_000010.10:g.101595941T>G , CM000672.1:g.101595941T>G	GRCh37
NC_000010.9:g.101585931T>G	NCBI36
NG_011798.1:g.58479T>G
NG_011798.2:g.58587T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3508T>G MANE Select	ENSP00000497274.1:p.Leu1170Val
ENST00000370449.8:c.3508T>G	ENSP00000359478.4:p.Leu1170Val
NM_000392.4:c.3508T>G	NP_000383.1:p.Leu1170Val
XM_006717630.2:c.2812T>G	XP_006717693.1:p.Leu938Val
XR_945604.1:n.3697T>G
XR_945605.1:n.3699T>G
NM_000392.5:c.3508T>G MANE Select	NP_000383.2:p.Leu1170Val
XM_006717630.3:c.2812T>G	XP_006717693.1:p.Leu938Val
XR_945604.3:n.3751T>G
XR_945605.3:n.3751T>G