Canonical Allele Identifier: CA532288588

Gene: ABCG8

Linked Data

• dbSNP Id: rs1228226981
• gnomAD v2: 2-44104518-C-A
• gnomAD v3: 2-43877379-C-A
• gnomAD v4: 2-43877379-C-A
• MyVariant Identifiers: chr2:g.44104518C>A (hg19) ; chr2:g.43877379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877379C>A , CM000664.2:g.43877379C>A	GRCh38
NC_000002.11:g.44104518C>A , CM000664.1:g.44104518C>A	GRCh37
NC_000002.10:g.43958022C>A	NCBI36
NG_008884.1:g.43416C>A
NG_008884.2:g.50438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-182C>A MANE Select	ENSP00000272286.2:n.1757-182C>A
ENST00000272286.2:c.1757-182C>A	ENSP00000272286.2:n.1757-182C>A
NM_022437.2:c.1757-182C>A	NP_071882.1:n.1757-182C>A
XM_005264483.2:c.1754-182C>A	XP_005264540.1:n.1754-182C>A
XM_011533029.1:c.1769-182C>A	XP_011531331.1:n.1769-182C>A
XM_011533030.1:c.1766-182C>A	XP_011531332.1:n.1766-182C>A
XM_011533031.1:c.1541-182C>A	XP_011531333.1:n.1541-182C>A
XR_939707.1:n.2259-182C>A
NM_001357321.1:c.1754-182C>A	NP_001344250.1:n.1754-182C>A
XM_011533029.2:c.1769-182C>A	XP_011531331.1:n.1769-182C>A
XM_011533030.2:c.1766-182C>A	XP_011531332.1:n.1766-182C>A
XR_001738891.1:n.2273-182C>A
XR_939707.2:n.2273-182C>A
NM_022437.3:c.1757-182C>A MANE Select	NP_071882.1:n.1757-182C>A
NM_001357321.2:c.1754-182C>A	NP_001344250.1:n.1754-182C>A