Canonical Allele Identifier: CA346671406

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670014732
• MyVariant Identifiers: chr2:g.44104982G>A (hg19) ; chr2:g.43877843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877843G>A , CM000664.2:g.43877843G>A	GRCh38
NC_000002.11:g.44104982G>A , CM000664.1:g.44104982G>A	GRCh37
NC_000002.10:g.43958486G>A	NCBI36
NG_008884.1:g.43880G>A
NG_008884.2:g.50902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1952G>A MANE Select	ENSP00000272286.2:p.Ser651Asn
ENST00000272286.2:c.1952G>A	ENSP00000272286.2:p.Ser651Asn
NM_022437.2:c.1952G>A	NP_071882.1:p.Ser651Asn
XM_005264483.2:c.1949G>A	XP_005264540.1:p.Ser650Asn
XM_011533029.1:c.1964G>A	XP_011531331.1:p.Ser655Asn
XM_011533030.1:c.1961G>A	XP_011531332.1:p.Ser654Asn
XM_011533031.1:c.1736G>A	XP_011531333.1:p.Ser579Asn
XR_939707.1:n.2454G>A
NM_001357321.1:c.1949G>A	NP_001344250.1:p.Ser650Asn
XM_011533029.2:c.1964G>A	XP_011531331.1:p.Ser655Asn
XM_011533030.2:c.1961G>A	XP_011531332.1:p.Ser654Asn
XR_001738891.1:n.2468G>A
XR_939707.2:n.2468G>A
NM_022437.3:c.1952G>A MANE Select	NP_071882.1:p.Ser651Asn
NM_001357321.2:c.1949G>A	NP_001344250.1:p.Ser650Asn