Canonical Allele Identifier: CA426116402

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102428T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875289T>A , CM000664.2:g.43875289T>A	GRCh38
NC_000002.11:g.44102428T>A , CM000664.1:g.44102428T>A	GRCh37
NC_000002.10:g.43955932T>A	NCBI36
NG_008884.1:g.41326T>A
NG_008884.2:g.48348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1632T>A MANE Select	ENSP00000272286.2:p.Ile544=
ENST00000272286.2:c.1632T>A	ENSP00000272286.2:p.Ile544=
NM_022437.2:c.1632T>A	NP_071882.1:p.Ile544=
XM_005264483.2:c.1629T>A	XP_005264540.1:p.Ile543=
XM_011533029.1:c.1644T>A	XP_011531331.1:p.Ile548=
XM_011533030.1:c.1641T>A	XP_011531332.1:p.Ile547=
XM_011533031.1:c.1416T>A	XP_011531333.1:p.Ile472=
XR_939707.1:n.2134T>A
NM_001357321.1:c.1629T>A	NP_001344250.1:p.Ile543=
XM_011533029.2:c.1644T>A	XP_011531331.1:p.Ile548=
XM_011533030.2:c.1641T>A	XP_011531332.1:p.Ile547=
XR_001738891.1:n.2148T>A
XR_939707.2:n.2148T>A
NM_022437.3:c.1632T>A MANE Select	NP_071882.1:p.Ile544=
NM_001357321.2:c.1629T>A	NP_001344250.1:p.Ile543=