Canonical Allele Identifier: CA426116379

Gene: ABCG8

Linked Data

• dbSNP Id: rs1019461053
• gnomAD v3: 2-43875256-G-A
• gnomAD v4: 2-43875256-G-A
• MyVariant Identifiers: chr2:g.44102395G>A (hg19) ; chr2:g.43875256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875256G>A , CM000664.2:g.43875256G>A	GRCh38
NC_000002.11:g.44102395G>A , CM000664.1:g.44102395G>A	GRCh37
NC_000002.10:g.43955899G>A	NCBI36
NG_008884.1:g.41293G>A
NG_008884.2:g.48315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1599G>A MANE Select	ENSP00000272286.2:p.Leu533=
ENST00000272286.2:c.1599G>A	ENSP00000272286.2:p.Leu533=
NM_022437.2:c.1599G>A	NP_071882.1:p.Leu533=
XM_005264483.2:c.1596G>A	XP_005264540.1:p.Leu532=
XM_011533029.1:c.1611G>A	XP_011531331.1:p.Leu537=
XM_011533030.1:c.1608G>A	XP_011531332.1:p.Leu536=
XM_011533031.1:c.1383G>A	XP_011531333.1:p.Leu461=
XR_939707.1:n.2101G>A
NM_001357321.1:c.1596G>A	NP_001344250.1:p.Leu532=
XM_011533029.2:c.1611G>A	XP_011531331.1:p.Leu537=
XM_011533030.2:c.1608G>A	XP_011531332.1:p.Leu536=
XR_001738891.1:n.2115G>A
XR_939707.2:n.2115G>A
NM_022437.3:c.1599G>A MANE Select	NP_071882.1:p.Leu533=
NM_001357321.2:c.1596G>A	NP_001344250.1:p.Leu532=