Canonical Allele Identifier: CA378125174

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101596027T>G (hg19) ; chr10:g.99836270T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836270T>G , CM000672.2:g.99836270T>G	GRCh38
NC_000010.10:g.101596027T>G , CM000672.1:g.101596027T>G	GRCh37
NC_000010.9:g.101586017T>G	NCBI36
NG_011798.1:g.58565T>G
NG_011798.2:g.58673T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3594T>G MANE Select	ENSP00000497274.1:p.Phe1198Leu
ENST00000370449.8:c.3594T>G	ENSP00000359478.4:p.Phe1198Leu
NM_000392.4:c.3594T>G	NP_000383.1:p.Phe1198Leu
XM_006717630.2:c.2898T>G	XP_006717693.1:p.Phe966Leu
XR_945604.1:n.3783T>G
XR_945605.1:n.3785T>G
NM_000392.5:c.3594T>G MANE Select	NP_000383.2:p.Phe1198Leu
XM_006717630.3:c.2898T>G	XP_006717693.1:p.Phe966Leu
XR_945604.3:n.3837T>G
XR_945605.3:n.3837T>G