Canonical Allele Identifier: CA346670210

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102292G>C (hg19) ; chr2:g.43875153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875153G>C , CM000664.2:g.43875153G>C	GRCh38
NC_000002.11:g.44102292G>C , CM000664.1:g.44102292G>C	GRCh37
NC_000002.10:g.43955796G>C	NCBI36
NG_008884.1:g.41190G>C
NG_008884.2:g.48212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1496G>C MANE Select	ENSP00000272286.2:p.Gly499Ala
ENST00000272286.2:c.1496G>C	ENSP00000272286.2:p.Gly499Ala
NM_022437.2:c.1496G>C	NP_071882.1:p.Gly499Ala
XM_005264483.2:c.1493G>C	XP_005264540.1:p.Gly498Ala
XM_011533029.1:c.1508G>C	XP_011531331.1:p.Gly503Ala
XM_011533030.1:c.1505G>C	XP_011531332.1:p.Gly502Ala
XM_011533031.1:c.1280G>C	XP_011531333.1:p.Gly427Ala
XR_939707.1:n.1998G>C
NM_001357321.1:c.1493G>C	NP_001344250.1:p.Gly498Ala
XM_011533029.2:c.1508G>C	XP_011531331.1:p.Gly503Ala
XM_011533030.2:c.1505G>C	XP_011531332.1:p.Gly502Ala
XR_001738891.1:n.2012G>C
XR_939707.2:n.2012G>C
NM_022437.3:c.1496G>C MANE Select	NP_071882.1:p.Gly499Ala
NM_001357321.2:c.1493G>C	NP_001344250.1:p.Gly498Ala