Canonical Allele Identifier: CA346670470

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102421G>C (hg19) ; chr2:g.43875282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875282G>C , CM000664.2:g.43875282G>C	GRCh38
NC_000002.11:g.44102421G>C , CM000664.1:g.44102421G>C	GRCh37
NC_000002.10:g.43955925G>C	NCBI36
NG_008884.1:g.41319G>C
NG_008884.2:g.48341G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1625G>C MANE Select	ENSP00000272286.2:p.Cys542Ser
ENST00000272286.2:c.1625G>C	ENSP00000272286.2:p.Cys542Ser
NM_022437.2:c.1625G>C	NP_071882.1:p.Cys542Ser
XM_005264483.2:c.1622G>C	XP_005264540.1:p.Cys541Ser
XM_011533029.1:c.1637G>C	XP_011531331.1:p.Cys546Ser
XM_011533030.1:c.1634G>C	XP_011531332.1:p.Cys545Ser
XM_011533031.1:c.1409G>C	XP_011531333.1:p.Cys470Ser
XR_939707.1:n.2127G>C
NM_001357321.1:c.1622G>C	NP_001344250.1:p.Cys541Ser
XM_011533029.2:c.1637G>C	XP_011531331.1:p.Cys546Ser
XM_011533030.2:c.1634G>C	XP_011531332.1:p.Cys545Ser
XR_001738891.1:n.2141G>C
XR_939707.2:n.2141G>C
NM_022437.3:c.1625G>C MANE Select	NP_071882.1:p.Cys542Ser
NM_001357321.2:c.1622G>C	NP_001344250.1:p.Cys541Ser