Canonical Allele Identifier: CA425908300

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104950C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877811C>A , CM000664.2:g.43877811C>A	GRCh38
NC_000002.11:g.44104950C>A , CM000664.1:g.44104950C>A	GRCh37
NC_000002.10:g.43958454C>A	NCBI36
NG_008884.1:g.43848C>A
NG_008884.2:g.50870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1920C>A MANE Select	ENSP00000272286.2:p.Leu640=
ENST00000272286.2:c.1920C>A	ENSP00000272286.2:p.Leu640=
NM_022437.2:c.1920C>A	NP_071882.1:p.Leu640=
XM_005264483.2:c.1917C>A	XP_005264540.1:p.Leu639=
XM_011533029.1:c.1932C>A	XP_011531331.1:p.Leu644=
XM_011533030.1:c.1929C>A	XP_011531332.1:p.Leu643=
XM_011533031.1:c.1704C>A	XP_011531333.1:p.Leu568=
XR_939707.1:n.2422C>A
NM_001357321.1:c.1917C>A	NP_001344250.1:p.Leu639=
XM_011533029.2:c.1932C>A	XP_011531331.1:p.Leu644=
XM_011533030.2:c.1929C>A	XP_011531332.1:p.Leu643=
XR_001738891.1:n.2436C>A
XR_939707.2:n.2436C>A
NM_022437.3:c.1920C>A MANE Select	NP_071882.1:p.Leu640=
NM_001357321.2:c.1917C>A	NP_001344250.1:p.Leu639=