Canonical Allele Identifier: CA346670624

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102499A>T (hg19) ; chr2:g.43875360A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1703A>T MANE Select	ENSP00000272286.2:p.Asn568Ile
ENST00000272286.2:c.1703A>T	ENSP00000272286.2:p.Asn568Ile
NM_022437.2:c.1703A>T	NP_071882.1:p.Asn568Ile
XM_005264483.2:c.1700A>T	XP_005264540.1:p.Asn567Ile
XM_011533029.1:c.1715A>T	XP_011531331.1:p.Asn572Ile
XM_011533030.1:c.1712A>T	XP_011531332.1:p.Asn571Ile
XM_011533031.1:c.1487A>T	XP_011531333.1:p.Asn496Ile
XR_939707.1:n.2205A>T
NM_001357321.1:c.1700A>T	NP_001344250.1:p.Asn567Ile
XM_011533029.2:c.1715A>T	XP_011531331.1:p.Asn572Ile
XM_011533030.2:c.1712A>T	XP_011531332.1:p.Asn571Ile
XR_001738891.1:n.2219A>T
XR_939707.2:n.2219A>T
NM_022437.3:c.1703A>T MANE Select	NP_071882.1:p.Asn568Ile
NM_001357321.2:c.1700A>T	NP_001344250.1:p.Asn567Ile