Canonical Allele Identifier: CA346670253

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102313C>A (hg19) ; chr2:g.43875174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875174C>A , CM000664.2:g.43875174C>A	GRCh38
NC_000002.11:g.44102313C>A , CM000664.1:g.44102313C>A	GRCh37
NC_000002.10:g.43955817C>A	NCBI36
NG_008884.1:g.41211C>A
NG_008884.2:g.48233C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1517C>A MANE Select	ENSP00000272286.2:p.Ala506Asp
ENST00000272286.2:c.1517C>A	ENSP00000272286.2:p.Ala506Asp
NM_022437.2:c.1517C>A	NP_071882.1:p.Ala506Asp
XM_005264483.2:c.1514C>A	XP_005264540.1:p.Ala505Asp
XM_011533029.1:c.1529C>A	XP_011531331.1:p.Ala510Asp
XM_011533030.1:c.1526C>A	XP_011531332.1:p.Ala509Asp
XM_011533031.1:c.1301C>A	XP_011531333.1:p.Ala434Asp
XR_939707.1:n.2019C>A
NM_001357321.1:c.1514C>A	NP_001344250.1:p.Ala505Asp
XM_011533029.2:c.1529C>A	XP_011531331.1:p.Ala510Asp
XM_011533030.2:c.1526C>A	XP_011531332.1:p.Ala509Asp
XR_001738891.1:n.2033C>A
XR_939707.2:n.2033C>A
NM_022437.3:c.1517C>A MANE Select	NP_071882.1:p.Ala506Asp
NM_001357321.2:c.1514C>A	NP_001344250.1:p.Ala505Asp