Canonical Allele Identifier: CA346668949

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44099234A>G (hg19) ; chr2:g.43872095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872095A>G , CM000664.2:g.43872095A>G	GRCh38
NC_000002.11:g.44099234A>G , CM000664.1:g.44099234A>G	GRCh37
NC_000002.10:g.43952738A>G	NCBI36
NG_008884.1:g.38132A>G
NG_008884.2:g.45154A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1084A>G MANE Select	ENSP00000272286.2:p.Lys362Glu
ENST00000644611.1:c.1096A>G	ENSP00000495423.1:p.Lys366Glu
ENST00000272286.2:c.1084A>G	ENSP00000272286.2:p.Lys362Glu
NM_022437.2:c.1084A>G	NP_071882.1:p.Lys362Glu
XM_005264483.2:c.1084A>G	XP_005264540.1:p.Lys362Glu
XM_011533029.1:c.1096A>G	XP_011531331.1:p.Lys366Glu
XM_011533030.1:c.1096A>G	XP_011531332.1:p.Lys366Glu
XM_011533031.1:c.868A>G	XP_011531333.1:p.Lys290Glu
XR_939707.1:n.1586A>G
NM_001357321.1:c.1084A>G	NP_001344250.1:p.Lys362Glu
XM_011533029.2:c.1096A>G	XP_011531331.1:p.Lys366Glu
XM_011533030.2:c.1096A>G	XP_011531332.1:p.Lys366Glu
XR_001738891.1:n.1600A>G
XR_939707.2:n.1600A>G
NM_022437.3:c.1084A>G MANE Select	NP_071882.1:p.Lys362Glu
NM_001357321.2:c.1084A>G	NP_001344250.1:p.Lys362Glu