Canonical Allele Identifier: CA425908236

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104794C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877655C>A , CM000664.2:g.43877655C>A	GRCh38
NC_000002.11:g.44104794C>A , CM000664.1:g.44104794C>A	GRCh37
NC_000002.10:g.43958298C>A	NCBI36
NG_008884.1:g.43692C>A
NG_008884.2:g.50714C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1851C>A MANE Select	ENSP00000272286.2:p.Leu617=
ENST00000272286.2:c.1851C>A	ENSP00000272286.2:p.Leu617=
NM_022437.2:c.1851C>A	NP_071882.1:p.Leu617=
XM_005264483.2:c.1848C>A	XP_005264540.1:p.Leu616=
XM_011533029.1:c.1863C>A	XP_011531331.1:p.Leu621=
XM_011533030.1:c.1860C>A	XP_011531332.1:p.Leu620=
XM_011533031.1:c.1635C>A	XP_011531333.1:p.Leu545=
XR_939707.1:n.2353C>A
NM_001357321.1:c.1848C>A	NP_001344250.1:p.Leu616=
XM_011533029.2:c.1863C>A	XP_011531331.1:p.Leu621=
XM_011533030.2:c.1860C>A	XP_011531332.1:p.Leu620=
XR_001738891.1:n.2367C>A
XR_939707.2:n.2367C>A
NM_022437.3:c.1851C>A MANE Select	NP_071882.1:p.Leu617=
NM_001357321.2:c.1848C>A	NP_001344250.1:p.Leu616=