Canonical Allele Identifier: CA346663551

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073375T>A (hg19) ; chr2:g.43846236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846236T>A , CM000664.2:g.43846236T>A	GRCh38
NC_000002.11:g.44073375T>A , CM000664.1:g.44073375T>A	GRCh37
NC_000002.10:g.43926879T>A	NCBI36
NG_008884.1:g.12273T>A
NG_008884.2:g.19295T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.247T>A MANE Select	ENSP00000272286.2:p.Ser83Thr
ENST00000643284.1:n.704T>A
ENST00000644611.1:c.259T>A	ENSP00000495423.1:p.Ser87Thr
ENST00000272286.2:c.247T>A	ENSP00000272286.2:p.Ser83Thr
NM_022437.2:c.247T>A	NP_071882.1:p.Ser83Thr
XM_005264483.2:c.247T>A	XP_005264540.1:p.Ser83Thr
XM_011533029.1:c.259T>A	XP_011531331.1:p.Ser87Thr
XM_011533030.1:c.259T>A	XP_011531332.1:p.Ser87Thr
XM_011533031.1:c.31T>A	XP_011531333.1:p.Ser11Thr
XR_939707.1:n.749T>A
NM_001357321.1:c.247T>A	NP_001344250.1:p.Ser83Thr
XM_011533029.2:c.259T>A	XP_011531331.1:p.Ser87Thr
XM_011533030.2:c.259T>A	XP_011531332.1:p.Ser87Thr
XR_001738891.1:n.763T>A
XR_939707.2:n.763T>A
NM_022437.3:c.247T>A MANE Select	NP_071882.1:p.Ser83Thr
NM_001357321.2:c.247T>A	NP_001344250.1:p.Ser83Thr