Canonical Allele Identifier: CA1637595

Gene: ABCG8

Linked Data

• dbSNP Id: rs1467158220
• ExAC: 2:44102499 A / G
• gnomAD v2: 2-44102499-A-G
• gnomAD v4: 2-43875360-A-G
• MyVariant Identifiers: chr2:g.44102499A>G (hg19) ; chr2:g.44102499_44102502delinsGCTC (hg19) ; chr2:g.43875360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875360A>G , CM000664.2:g.43875360A>G	GRCh38
NC_000002.11:g.44102499A>G , CM000664.1:g.44102499A>G	GRCh37
NC_000002.10:g.43956003A>G	NCBI36
NG_008884.1:g.41397A>G
NG_008884.2:g.48419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1703A>G MANE Select	ENSP00000272286.2:p.Asn568Ser
ENST00000272286.2:c.1703A>G	ENSP00000272286.2:p.Asn568Ser
NM_022437.2:c.1703A>G	NP_071882.1:p.Asn568Ser
XM_005264483.2:c.1700A>G	XP_005264540.1:p.Asn567Ser
XM_011533029.1:c.1715A>G	XP_011531331.1:p.Asn572Ser
XM_011533030.1:c.1712A>G	XP_011531332.1:p.Asn571Ser
XM_011533031.1:c.1487A>G	XP_011531333.1:p.Asn496Ser
XR_939707.1:n.2205A>G
NM_001357321.1:c.1700A>G	NP_001344250.1:p.Asn567Ser
XM_011533029.2:c.1715A>G	XP_011531331.1:p.Asn572Ser
XM_011533030.2:c.1712A>G	XP_011531332.1:p.Asn571Ser
XR_001738891.1:n.2219A>G
XR_939707.2:n.2219A>G
NM_022437.3:c.1703A>G MANE Select	NP_071882.1:p.Asn568Ser
NM_001357321.2:c.1700A>G	NP_001344250.1:p.Asn567Ser