Canonical Allele Identifier: CA46470766

Gene: ABCG8

Linked Data

• dbSNP Id: rs145756111
• MyVariant Identifiers: chr2:g.44102302G>T (hg19) ; chr2:g.43875163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875163G>T , CM000664.2:g.43875163G>T	GRCh38
NC_000002.11:g.44102302G>T , CM000664.1:g.44102302G>T	GRCh37
NC_000002.10:g.43955806G>T	NCBI36
NG_008884.1:g.41200G>T
NG_008884.2:g.48222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1506G>T MANE Select	ENSP00000272286.2:p.Pro502=
ENST00000272286.2:c.1506G>T	ENSP00000272286.2:p.Pro502=
NM_022437.2:c.1506G>T	NP_071882.1:p.Pro502=
XM_005264483.2:c.1503G>T	XP_005264540.1:p.Pro501=
XM_011533029.1:c.1518G>T	XP_011531331.1:p.Pro506=
XM_011533030.1:c.1515G>T	XP_011531332.1:p.Pro505=
XM_011533031.1:c.1290G>T	XP_011531333.1:p.Pro430=
XR_939707.1:n.2008G>T
NM_001357321.1:c.1503G>T	NP_001344250.1:p.Pro501=
XM_011533029.2:c.1518G>T	XP_011531331.1:p.Pro506=
XM_011533030.2:c.1515G>T	XP_011531332.1:p.Pro505=
XR_001738891.1:n.2022G>T
XR_939707.2:n.2022G>T
NM_022437.3:c.1506G>T MANE Select	NP_071882.1:p.Pro502=
NM_001357321.2:c.1503G>T	NP_001344250.1:p.Pro501=