Canonical Allele Identifier: CA46473883

Gene: ABCG8

Linked Data

• dbSNP Id: rs570181633
• gnomAD v3: 2-43877368-A-G
• gnomAD v4: 2-43877368-A-G
• MyVariant Identifiers: chr2:g.44104507A>G (hg19) ; chr2:g.43877368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877368A>G , CM000664.2:g.43877368A>G	GRCh38
NC_000002.11:g.44104507A>G , CM000664.1:g.44104507A>G	GRCh37
NC_000002.10:g.43958011A>G	NCBI36
NG_008884.1:g.43405A>G
NG_008884.2:g.50427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-193A>G MANE Select	ENSP00000272286.2:n.1757-193A>G
ENST00000272286.2:c.1757-193A>G	ENSP00000272286.2:n.1757-193A>G
NM_022437.2:c.1757-193A>G	NP_071882.1:n.1757-193A>G
XM_005264483.2:c.1754-193A>G	XP_005264540.1:n.1754-193A>G
XM_011533029.1:c.1769-193A>G	XP_011531331.1:n.1769-193A>G
XM_011533030.1:c.1766-193A>G	XP_011531332.1:n.1766-193A>G
XM_011533031.1:c.1541-193A>G	XP_011531333.1:n.1541-193A>G
XR_939707.1:n.2259-193A>G
NM_001357321.1:c.1754-193A>G	NP_001344250.1:n.1754-193A>G
XM_011533029.2:c.1769-193A>G	XP_011531331.1:n.1769-193A>G
XM_011533030.2:c.1766-193A>G	XP_011531332.1:n.1766-193A>G
XR_001738891.1:n.2273-193A>G
XR_939707.2:n.2273-193A>G
NM_022437.3:c.1757-193A>G MANE Select	NP_071882.1:n.1757-193A>G
NM_001357321.2:c.1754-193A>G	NP_001344250.1:n.1754-193A>G