Canonical Allele Identifier: CA346670515

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102447G>T (hg19) ; chr2:g.43875308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875308G>T , CM000664.2:g.43875308G>T	GRCh38
NC_000002.11:g.44102447G>T , CM000664.1:g.44102447G>T	GRCh37
NC_000002.10:g.43955951G>T	NCBI36
NG_008884.1:g.41345G>T
NG_008884.2:g.48367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1651G>T MANE Select	ENSP00000272286.2:p.Ala551Ser
ENST00000272286.2:c.1651G>T	ENSP00000272286.2:p.Ala551Ser
NM_022437.2:c.1651G>T	NP_071882.1:p.Ala551Ser
XM_005264483.2:c.1648G>T	XP_005264540.1:p.Ala550Ser
XM_011533029.1:c.1663G>T	XP_011531331.1:p.Ala555Ser
XM_011533030.1:c.1660G>T	XP_011531332.1:p.Ala554Ser
XM_011533031.1:c.1435G>T	XP_011531333.1:p.Ala479Ser
XR_939707.1:n.2153G>T
NM_001357321.1:c.1648G>T	NP_001344250.1:p.Ala550Ser
XM_011533029.2:c.1663G>T	XP_011531331.1:p.Ala555Ser
XM_011533030.2:c.1660G>T	XP_011531332.1:p.Ala554Ser
XR_001738891.1:n.2167G>T
XR_939707.2:n.2167G>T
NM_022437.3:c.1651G>T MANE Select	NP_071882.1:p.Ala551Ser
NM_001357321.2:c.1648G>T	NP_001344250.1:p.Ala550Ser