Canonical Allele Identifier: CA346671366

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104973T>A (hg19) ; chr2:g.43877834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877834T>A , CM000664.2:g.43877834T>A	GRCh38
NC_000002.11:g.44104973T>A , CM000664.1:g.44104973T>A	GRCh37
NC_000002.10:g.43958477T>A	NCBI36
NG_008884.1:g.43871T>A
NG_008884.2:g.50893T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1943T>A MANE Select	ENSP00000272286.2:p.Ile648Asn
ENST00000272286.2:c.1943T>A	ENSP00000272286.2:p.Ile648Asn
NM_022437.2:c.1943T>A	NP_071882.1:p.Ile648Asn
XM_005264483.2:c.1940T>A	XP_005264540.1:p.Ile647Asn
XM_011533029.1:c.1955T>A	XP_011531331.1:p.Ile652Asn
XM_011533030.1:c.1952T>A	XP_011531332.1:p.Ile651Asn
XM_011533031.1:c.1727T>A	XP_011531333.1:p.Ile576Asn
XR_939707.1:n.2445T>A
NM_001357321.1:c.1940T>A	NP_001344250.1:p.Ile647Asn
XM_011533029.2:c.1955T>A	XP_011531331.1:p.Ile652Asn
XM_011533030.2:c.1952T>A	XP_011531332.1:p.Ile651Asn
XR_001738891.1:n.2459T>A
XR_939707.2:n.2459T>A
NM_022437.3:c.1943T>A MANE Select	NP_071882.1:p.Ile648Asn
NM_001357321.2:c.1940T>A	NP_001344250.1:p.Ile647Asn