Canonical Allele Identifier: CA1637700

Gene: ABCG8

Linked Data

• dbSNP Id: rs777393753
• ExAC: 2:44104848 G / A
• gnomAD v2: 2-44104848-G-A
• gnomAD v4: 2-43877709-G-A
• MyVariant Identifiers: chr2:g.44104848G>A (hg19) ; chr2:g.43877709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877709G>A , CM000664.2:g.43877709G>A	GRCh38
NC_000002.11:g.44104848G>A , CM000664.1:g.44104848G>A	GRCh37
NC_000002.10:g.43958352G>A	NCBI36
NG_008884.1:g.43746G>A
NG_008884.2:g.50768G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884+21G>A MANE Select	ENSP00000272286.2:n.1884+21G>A
ENST00000272286.2:c.1884+21G>A	ENSP00000272286.2:n.1884+21G>A
NM_022437.2:c.1884+21G>A	NP_071882.1:n.1884+21G>A
XM_005264483.2:c.1881+21G>A	XP_005264540.1:n.1881+21G>A
XM_011533029.1:c.1896+21G>A	XP_011531331.1:n.1896+21G>A
XM_011533030.1:c.1893+21G>A	XP_011531332.1:n.1893+21G>A
XM_011533031.1:c.1668+21G>A	XP_011531333.1:n.1668+21G>A
XR_939707.1:n.2386+21G>A
NM_001357321.1:c.1881+21G>A	NP_001344250.1:n.1881+21G>A
XM_011533029.2:c.1896+21G>A	XP_011531331.1:n.1896+21G>A
XM_011533030.2:c.1893+21G>A	XP_011531332.1:n.1893+21G>A
XR_001738891.1:n.2400+21G>A
XR_939707.2:n.2400+21G>A
NM_022437.3:c.1884+21G>A MANE Select	NP_071882.1:n.1884+21G>A
NM_001357321.2:c.1881+21G>A	NP_001344250.1:n.1881+21G>A