Canonical Allele Identifier: CA346670630

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102502C>T (hg19) ; chr2:g.43875363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875363C>T , CM000664.2:g.43875363C>T	GRCh38
NC_000002.11:g.44102502C>T , CM000664.1:g.44102502C>T	GRCh37
NC_000002.10:g.43956006C>T	NCBI36
NG_008884.1:g.41400C>T
NG_008884.2:g.48422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1706C>T MANE Select	ENSP00000272286.2:p.Ser569Phe
ENST00000272286.2:c.1706C>T	ENSP00000272286.2:p.Ser569Phe
NM_022437.2:c.1706C>T	NP_071882.1:p.Ser569Phe
XM_005264483.2:c.1703C>T	XP_005264540.1:p.Ser568Phe
XM_011533029.1:c.1718C>T	XP_011531331.1:p.Ser573Phe
XM_011533030.1:c.1715C>T	XP_011531332.1:p.Ser572Phe
XM_011533031.1:c.1490C>T	XP_011531333.1:p.Ser497Phe
XR_939707.1:n.2208C>T
NM_001357321.1:c.1703C>T	NP_001344250.1:p.Ser568Phe
XM_011533029.2:c.1718C>T	XP_011531331.1:p.Ser573Phe
XM_011533030.2:c.1715C>T	XP_011531332.1:p.Ser572Phe
XR_001738891.1:n.2222C>T
XR_939707.2:n.2222C>T
NM_022437.3:c.1706C>T MANE Select	NP_071882.1:p.Ser569Phe
NM_001357321.2:c.1703C>T	NP_001344250.1:p.Ser568Phe