Canonical Allele Identifier: CA378125185

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101596029C>T (hg19) ; chr10:g.99836272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836272C>T , CM000672.2:g.99836272C>T	GRCh38
NC_000010.10:g.101596029C>T , CM000672.1:g.101596029C>T	GRCh37
NC_000010.9:g.101586019C>T	NCBI36
NG_011798.1:g.58567C>T
NG_011798.2:g.58675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3596C>T MANE Select	ENSP00000497274.1:p.Ser1199Phe
ENST00000370449.8:c.3596C>T	ENSP00000359478.4:p.Ser1199Phe
NM_000392.4:c.3596C>T	NP_000383.1:p.Ser1199Phe
XM_006717630.2:c.2900C>T	XP_006717693.1:p.Ser967Phe
XR_945604.1:n.3785C>T
XR_945605.1:n.3787C>T
NM_000392.5:c.3596C>T MANE Select	NP_000383.2:p.Ser1199Phe
XM_006717630.3:c.2900C>T	XP_006717693.1:p.Ser967Phe
XR_945604.3:n.3839C>T
XR_945605.3:n.3839C>T