Canonical Allele Identifier: CA346671226

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104938C>A (hg19) ; chr2:g.43877799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877799C>A , CM000664.2:g.43877799C>A	GRCh38
NC_000002.11:g.44104938C>A , CM000664.1:g.44104938C>A	GRCh37
NC_000002.10:g.43958442C>A	NCBI36
NG_008884.1:g.43836C>A
NG_008884.2:g.50858C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1908C>A MANE Select	ENSP00000272286.2:p.Asp636Glu
ENST00000272286.2:c.1908C>A	ENSP00000272286.2:p.Asp636Glu
NM_022437.2:c.1908C>A	NP_071882.1:p.Asp636Glu
XM_005264483.2:c.1905C>A	XP_005264540.1:p.Asp635Glu
XM_011533029.1:c.1920C>A	XP_011531331.1:p.Asp640Glu
XM_011533030.1:c.1917C>A	XP_011531332.1:p.Asp639Glu
XM_011533031.1:c.1692C>A	XP_011531333.1:p.Asp564Glu
XR_939707.1:n.2410C>A
NM_001357321.1:c.1905C>A	NP_001344250.1:p.Asp635Glu
XM_011533029.2:c.1920C>A	XP_011531331.1:p.Asp640Glu
XM_011533030.2:c.1917C>A	XP_011531332.1:p.Asp639Glu
XR_001738891.1:n.2424C>A
XR_939707.2:n.2424C>A
NM_022437.3:c.1908C>A MANE Select	NP_071882.1:p.Asp636Glu
NM_001357321.2:c.1905C>A	NP_001344250.1:p.Asp635Glu