Canonical Allele Identifier: CA426116421

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102455C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875316C>A , CM000664.2:g.43875316C>A	GRCh38
NC_000002.11:g.44102455C>A , CM000664.1:g.44102455C>A	GRCh37
NC_000002.10:g.43955959C>A	NCBI36
NG_008884.1:g.41353C>A
NG_008884.2:g.48375C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1659C>A MANE Select	ENSP00000272286.2:p.Leu553=
ENST00000272286.2:c.1659C>A	ENSP00000272286.2:p.Leu553=
NM_022437.2:c.1659C>A	NP_071882.1:p.Leu553=
XM_005264483.2:c.1656C>A	XP_005264540.1:p.Leu552=
XM_011533029.1:c.1671C>A	XP_011531331.1:p.Leu557=
XM_011533030.1:c.1668C>A	XP_011531332.1:p.Leu556=
XM_011533031.1:c.1443C>A	XP_011531333.1:p.Leu481=
XR_939707.1:n.2161C>A
NM_001357321.1:c.1656C>A	NP_001344250.1:p.Leu552=
XM_011533029.2:c.1671C>A	XP_011531331.1:p.Leu557=
XM_011533030.2:c.1668C>A	XP_011531332.1:p.Leu556=
XR_001738891.1:n.2175C>A
XR_939707.2:n.2175C>A
NM_022437.3:c.1659C>A MANE Select	NP_071882.1:p.Leu553=
NM_001357321.2:c.1656C>A	NP_001344250.1:p.Leu552=