Canonical Allele Identifier: CA346670521

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102451T>A (hg19) ; chr2:g.43875312T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875312T>A , CM000664.2:g.43875312T>A	GRCh38
NC_000002.11:g.44102451T>A , CM000664.1:g.44102451T>A	GRCh37
NC_000002.10:g.43955955T>A	NCBI36
NG_008884.1:g.41349T>A
NG_008884.2:g.48371T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1655T>A MANE Select	ENSP00000272286.2:p.Leu552Gln
ENST00000272286.2:c.1655T>A	ENSP00000272286.2:p.Leu552Gln
NM_022437.2:c.1655T>A	NP_071882.1:p.Leu552Gln
XM_005264483.2:c.1652T>A	XP_005264540.1:p.Leu551Gln
XM_011533029.1:c.1667T>A	XP_011531331.1:p.Leu556Gln
XM_011533030.1:c.1664T>A	XP_011531332.1:p.Leu555Gln
XM_011533031.1:c.1439T>A	XP_011531333.1:p.Leu480Gln
XR_939707.1:n.2157T>A
NM_001357321.1:c.1652T>A	NP_001344250.1:p.Leu551Gln
XM_011533029.2:c.1667T>A	XP_011531331.1:p.Leu556Gln
XM_011533030.2:c.1664T>A	XP_011531332.1:p.Leu555Gln
XR_001738891.1:n.2171T>A
XR_939707.2:n.2171T>A
NM_022437.3:c.1655T>A MANE Select	NP_071882.1:p.Leu552Gln
NM_001357321.2:c.1652T>A	NP_001344250.1:p.Leu551Gln