Canonical Allele Identifier: CA346663500

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073352G>C (hg19) ; chr2:g.43846213G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846213G>C , CM000664.2:g.43846213G>C	GRCh38
NC_000002.11:g.44073352G>C , CM000664.1:g.44073352G>C	GRCh37
NC_000002.10:g.43926856G>C	NCBI36
NG_008884.1:g.12250G>C
NG_008884.2:g.19272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.224G>C MANE Select	ENSP00000272286.2:p.Trp75Ser
ENST00000643284.1:n.681G>C
ENST00000644611.1:c.236G>C	ENSP00000495423.1:p.Trp79Ser
ENST00000272286.2:c.224G>C	ENSP00000272286.2:p.Trp75Ser
NM_022437.2:c.224G>C	NP_071882.1:p.Trp75Ser
XM_005264483.2:c.224G>C	XP_005264540.1:p.Trp75Ser
XM_011533029.1:c.236G>C	XP_011531331.1:p.Trp79Ser
XM_011533030.1:c.236G>C	XP_011531332.1:p.Trp79Ser
XM_011533031.1:c.8G>C	XP_011531333.1:p.Trp3Ser
XR_939707.1:n.726G>C
NM_001357321.1:c.224G>C	NP_001344250.1:p.Trp75Ser
XM_011533029.2:c.236G>C	XP_011531331.1:p.Trp79Ser
XM_011533030.2:c.236G>C	XP_011531332.1:p.Trp79Ser
XR_001738891.1:n.740G>C
XR_939707.2:n.740G>C
NM_022437.3:c.224G>C MANE Select	NP_071882.1:p.Trp75Ser
NM_001357321.2:c.224G>C	NP_001344250.1:p.Trp75Ser