Canonical Allele Identifier: CA346670528

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102454T>G (hg19) ; chr2:g.43875315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875315T>G , CM000664.2:g.43875315T>G	GRCh38
NC_000002.11:g.44102454T>G , CM000664.1:g.44102454T>G	GRCh37
NC_000002.10:g.43955958T>G	NCBI36
NG_008884.1:g.41352T>G
NG_008884.2:g.48374T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1658T>G MANE Select	ENSP00000272286.2:p.Leu553Arg
ENST00000272286.2:c.1658T>G	ENSP00000272286.2:p.Leu553Arg
NM_022437.2:c.1658T>G	NP_071882.1:p.Leu553Arg
XM_005264483.2:c.1655T>G	XP_005264540.1:p.Leu552Arg
XM_011533029.1:c.1670T>G	XP_011531331.1:p.Leu557Arg
XM_011533030.1:c.1667T>G	XP_011531332.1:p.Leu556Arg
XM_011533031.1:c.1442T>G	XP_011531333.1:p.Leu481Arg
XR_939707.1:n.2160T>G
NM_001357321.1:c.1655T>G	NP_001344250.1:p.Leu552Arg
XM_011533029.2:c.1670T>G	XP_011531331.1:p.Leu557Arg
XM_011533030.2:c.1667T>G	XP_011531332.1:p.Leu556Arg
XR_001738891.1:n.2174T>G
XR_939707.2:n.2174T>G
NM_022437.3:c.1658T>G MANE Select	NP_071882.1:p.Leu553Arg
NM_001357321.2:c.1655T>G	NP_001344250.1:p.Leu552Arg