Canonical Allele Identifier: CA426116434

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102476C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875337C>G , CM000664.2:g.43875337C>G	GRCh38
NC_000002.11:g.44102476C>G , CM000664.1:g.44102476C>G	GRCh37
NC_000002.10:g.43955980C>G	NCBI36
NG_008884.1:g.41374C>G
NG_008884.2:g.48396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1680C>G MANE Select	ENSP00000272286.2:p.Ser560=
ENST00000272286.2:c.1680C>G	ENSP00000272286.2:p.Ser560=
NM_022437.2:c.1680C>G	NP_071882.1:p.Ser560=
XM_005264483.2:c.1677C>G	XP_005264540.1:p.Ser559=
XM_011533029.1:c.1692C>G	XP_011531331.1:p.Ser564=
XM_011533030.1:c.1689C>G	XP_011531332.1:p.Ser563=
XM_011533031.1:c.1464C>G	XP_011531333.1:p.Ser488=
XR_939707.1:n.2182C>G
NM_001357321.1:c.1677C>G	NP_001344250.1:p.Ser559=
XM_011533029.2:c.1692C>G	XP_011531331.1:p.Ser564=
XM_011533030.2:c.1689C>G	XP_011531332.1:p.Ser563=
XR_001738891.1:n.2196C>G
XR_939707.2:n.2196C>G
NM_022437.3:c.1680C>G MANE Select	NP_071882.1:p.Ser560=
NM_001357321.2:c.1677C>G	NP_001344250.1:p.Ser559=