Canonical Allele Identifier: CA346663507

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073355C>A (hg19) ; chr2:g.43846216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846216C>A , CM000664.2:g.43846216C>A	GRCh38
NC_000002.11:g.44073355C>A , CM000664.1:g.44073355C>A	GRCh37
NC_000002.10:g.43926859C>A	NCBI36
NG_008884.1:g.12253C>A
NG_008884.2:g.19275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.227C>A MANE Select	ENSP00000272286.2:p.Thr76Lys
ENST00000643284.1:n.684C>A
ENST00000644611.1:c.239C>A	ENSP00000495423.1:p.Thr80Lys
ENST00000272286.2:c.227C>A	ENSP00000272286.2:p.Thr76Lys
NM_022437.2:c.227C>A	NP_071882.1:p.Thr76Lys
XM_005264483.2:c.227C>A	XP_005264540.1:p.Thr76Lys
XM_011533029.1:c.239C>A	XP_011531331.1:p.Thr80Lys
XM_011533030.1:c.239C>A	XP_011531332.1:p.Thr80Lys
XM_011533031.1:c.11C>A	XP_011531333.1:p.Thr4Lys
XR_939707.1:n.729C>A
NM_001357321.1:c.227C>A	NP_001344250.1:p.Thr76Lys
XM_011533029.2:c.239C>A	XP_011531331.1:p.Thr80Lys
XM_011533030.2:c.239C>A	XP_011531332.1:p.Thr80Lys
XR_001738891.1:n.743C>A
XR_939707.2:n.743C>A
NM_022437.3:c.227C>A MANE Select	NP_071882.1:p.Thr76Lys
NM_001357321.2:c.227C>A	NP_001344250.1:p.Thr76Lys