Canonical Allele Identifier: CA378128531

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101605532T>G (hg19) ; chr10:g.99845775T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845775T>G , CM000672.2:g.99845775T>G	GRCh38
NC_000010.10:g.101605532T>G , CM000672.1:g.101605532T>G	GRCh37
NC_000010.9:g.101595522T>G	NCBI36
NG_011798.1:g.68070T>G
NG_011798.2:g.68178T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4139T>G MANE Select	ENSP00000497274.1:p.Ile1380Ser
ENST00000648523.1:c.27T>G
ENST00000649459.1:n.487T>G
ENST00000370449.8:c.4139T>G	ENSP00000359478.4:p.Ile1380Ser
NM_000392.4:c.4139T>G	NP_000383.1:p.Ile1380Ser
XM_006717630.2:c.3443T>G	XP_006717693.1:p.Ile1148Ser
XR_945604.1:n.4269T>G
XR_945605.1:n.4203T>G
NM_000392.5:c.4139T>G MANE Select	NP_000383.2:p.Ile1380Ser
XM_006717630.3:c.3443T>G	XP_006717693.1:p.Ile1148Ser
XR_945604.3:n.4323T>G
XR_945605.3:n.4255T>G