Canonical Allele Identifier: CA346670494

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102431G>T (hg19) ; chr2:g.43875292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875292G>T , CM000664.2:g.43875292G>T	GRCh38
NC_000002.11:g.44102431G>T , CM000664.1:g.44102431G>T	GRCh37
NC_000002.10:g.43955935G>T	NCBI36
NG_008884.1:g.41329G>T
NG_008884.2:g.48351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1635G>T MANE Select	ENSP00000272286.2:p.Met545Ile
ENST00000272286.2:c.1635G>T	ENSP00000272286.2:p.Met545Ile
NM_022437.2:c.1635G>T	NP_071882.1:p.Met545Ile
XM_005264483.2:c.1632G>T	XP_005264540.1:p.Met544Ile
XM_011533029.1:c.1647G>T	XP_011531331.1:p.Met549Ile
XM_011533030.1:c.1644G>T	XP_011531332.1:p.Met548Ile
XM_011533031.1:c.1419G>T	XP_011531333.1:p.Met473Ile
XR_939707.1:n.2137G>T
NM_001357321.1:c.1632G>T	NP_001344250.1:p.Met544Ile
XM_011533029.2:c.1647G>T	XP_011531331.1:p.Met549Ile
XM_011533030.2:c.1644G>T	XP_011531332.1:p.Met548Ile
XR_001738891.1:n.2151G>T
XR_939707.2:n.2151G>T
NM_022437.3:c.1635G>T MANE Select	NP_071882.1:p.Met545Ile
NM_001357321.2:c.1632G>T	NP_001344250.1:p.Met544Ile