Canonical Allele Identifier: CA425752448

Gene: ABCG8

Linked Data

• dbSNP Id: rs1384201161
• gnomAD v2: 2-44073386-G-A
• gnomAD v4: 2-43846247-G-A
• MyVariant Identifiers: chr2:g.44073386G>A (hg19) ; chr2:g.43846247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846247G>A , CM000664.2:g.43846247G>A	GRCh38
NC_000002.11:g.44073386G>A , CM000664.1:g.44073386G>A	GRCh37
NC_000002.10:g.43926890G>A	NCBI36
NG_008884.1:g.12284G>A
NG_008884.2:g.19306G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.258G>A MANE Select	ENSP00000272286.2:p.Leu86=
ENST00000643284.1:n.715G>A
ENST00000644611.1:c.270G>A	ENSP00000495423.1:p.Leu90=
ENST00000272286.2:c.258G>A	ENSP00000272286.2:p.Leu86=
NM_022437.2:c.258G>A	NP_071882.1:p.Leu86=
XM_005264483.2:c.258G>A	XP_005264540.1:p.Leu86=
XM_011533029.1:c.270G>A	XP_011531331.1:p.Leu90=
XM_011533030.1:c.270G>A	XP_011531332.1:p.Leu90=
XM_011533031.1:c.42G>A	XP_011531333.1:p.Leu14=
XR_939707.1:n.760G>A
NM_001357321.1:c.258G>A	NP_001344250.1:p.Leu86=
XM_011533029.2:c.270G>A	XP_011531331.1:p.Leu90=
XM_011533030.2:c.270G>A	XP_011531332.1:p.Leu90=
XR_001738891.1:n.774G>A
XR_939707.2:n.774G>A
NM_022437.3:c.258G>A MANE Select	NP_071882.1:p.Leu86=
NM_001357321.2:c.258G>A	NP_001344250.1:p.Leu86=