Canonical Allele Identifier: CA346670658

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102516G>C (hg19) ; chr2:g.43875377G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875377G>C , CM000664.2:g.43875377G>C	GRCh38
NC_000002.11:g.44102516G>C , CM000664.1:g.44102516G>C	GRCh37
NC_000002.10:g.43956020G>C	NCBI36
NG_008884.1:g.41414G>C
NG_008884.2:g.48436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1720G>C MANE Select	ENSP00000272286.2:p.Gly574Arg
ENST00000272286.2:c.1720G>C	ENSP00000272286.2:p.Gly574Arg
NM_022437.2:c.1720G>C	NP_071882.1:p.Gly574Arg
XM_005264483.2:c.1717G>C	XP_005264540.1:p.Gly573Arg
XM_011533029.1:c.1732G>C	XP_011531331.1:p.Gly578Arg
XM_011533030.1:c.1729G>C	XP_011531332.1:p.Gly577Arg
XM_011533031.1:c.1504G>C	XP_011531333.1:p.Gly502Arg
XR_939707.1:n.2222G>C
NM_001357321.1:c.1717G>C	NP_001344250.1:p.Gly573Arg
XM_011533029.2:c.1732G>C	XP_011531331.1:p.Gly578Arg
XM_011533030.2:c.1729G>C	XP_011531332.1:p.Gly577Arg
XR_001738891.1:n.2236G>C
XR_939707.2:n.2236G>C
NM_022437.3:c.1720G>C MANE Select	NP_071882.1:p.Gly574Arg
NM_001357321.2:c.1717G>C	NP_001344250.1:p.Gly573Arg