Canonical Allele Identifier: CA346670469

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1719594
• ClinVar RCV Id: RCV002303846
• MyVariant Identifiers: chr2:g.44102421G>A (hg19) ; chr2:g.43875282G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1625G>A MANE Select	ENSP00000272286.2:p.Cys542Tyr
ENST00000272286.2:c.1625G>A	ENSP00000272286.2:p.Cys542Tyr
NM_022437.2:c.1625G>A	NP_071882.1:p.Cys542Tyr
XM_005264483.2:c.1622G>A	XP_005264540.1:p.Cys541Tyr
XM_011533029.1:c.1637G>A	XP_011531331.1:p.Cys546Tyr
XM_011533030.1:c.1634G>A	XP_011531332.1:p.Cys545Tyr
XM_011533031.1:c.1409G>A	XP_011531333.1:p.Cys470Tyr
XR_939707.1:n.2127G>A
NM_001357321.1:c.1622G>A	NP_001344250.1:p.Cys541Tyr
XM_011533029.2:c.1637G>A	XP_011531331.1:p.Cys546Tyr
XM_011533030.2:c.1634G>A	XP_011531332.1:p.Cys545Tyr
XR_001738891.1:n.2141G>A
XR_939707.2:n.2141G>A
NM_022437.3:c.1625G>A MANE Select	NP_071882.1:p.Cys542Tyr
NM_001357321.2:c.1622G>A	NP_001344250.1:p.Cys541Tyr