Canonical Allele Identifier: CA346671190

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104929G>A (hg19) ; chr2:g.43877790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877790G>A , CM000664.2:g.43877790G>A	GRCh38
NC_000002.11:g.44104929G>A , CM000664.1:g.44104929G>A	GRCh37
NC_000002.10:g.43958433G>A	NCBI36
NG_008884.1:g.43827G>A
NG_008884.2:g.50849G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1899G>A MANE Select	ENSP00000272286.2:p.Met633Ile
ENST00000272286.2:c.1899G>A	ENSP00000272286.2:p.Met633Ile
NM_022437.2:c.1899G>A	NP_071882.1:p.Met633Ile
XM_005264483.2:c.1896G>A	XP_005264540.1:p.Met632Ile
XM_011533029.1:c.1911G>A	XP_011531331.1:p.Met637Ile
XM_011533030.1:c.1908G>A	XP_011531332.1:p.Met636Ile
XM_011533031.1:c.1683G>A	XP_011531333.1:p.Met561Ile
XR_939707.1:n.2401G>A
NM_001357321.1:c.1896G>A	NP_001344250.1:p.Met632Ile
XM_011533029.2:c.1911G>A	XP_011531331.1:p.Met637Ile
XM_011533030.2:c.1908G>A	XP_011531332.1:p.Met636Ile
XR_001738891.1:n.2415G>A
XR_939707.2:n.2415G>A
NM_022437.3:c.1899G>A MANE Select	NP_071882.1:p.Met633Ile
NM_001357321.2:c.1896G>A	NP_001344250.1:p.Met632Ile