Canonical Allele Identifier: CA346670227

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102300C>T (hg19) ; chr2:g.43875161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875161C>T , CM000664.2:g.43875161C>T	GRCh38
NC_000002.11:g.44102300C>T , CM000664.1:g.44102300C>T	GRCh37
NC_000002.10:g.43955804C>T	NCBI36
NG_008884.1:g.41198C>T
NG_008884.2:g.48220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1504C>T MANE Select	ENSP00000272286.2:p.Pro502Ser
ENST00000272286.2:c.1504C>T	ENSP00000272286.2:p.Pro502Ser
NM_022437.2:c.1504C>T	NP_071882.1:p.Pro502Ser
XM_005264483.2:c.1501C>T	XP_005264540.1:p.Pro501Ser
XM_011533029.1:c.1516C>T	XP_011531331.1:p.Pro506Ser
XM_011533030.1:c.1513C>T	XP_011531332.1:p.Pro505Ser
XM_011533031.1:c.1288C>T	XP_011531333.1:p.Pro430Ser
XR_939707.1:n.2006C>T
NM_001357321.1:c.1501C>T	NP_001344250.1:p.Pro501Ser
XM_011533029.2:c.1516C>T	XP_011531331.1:p.Pro506Ser
XM_011533030.2:c.1513C>T	XP_011531332.1:p.Pro505Ser
XR_001738891.1:n.2020C>T
XR_939707.2:n.2020C>T
NM_022437.3:c.1504C>T MANE Select	NP_071882.1:p.Pro502Ser
NM_001357321.2:c.1501C>T	NP_001344250.1:p.Pro501Ser