Canonical Allele Identifier: CA355490403

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170724960C>A (hg19) ; chr3:g.171007171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007171C>A , CM000665.2:g.171007171C>A	GRCh38
NC_000003.11:g.170724960C>A , CM000665.1:g.170724960C>A	GRCh37
NC_000003.10:g.172207654C>A	NCBI36
NG_008108.1:g.24809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.589G>T MANE Select	ENSP00000323568.3:p.Val197Phe
ENST00000314251.7:c.589G>T	ENSP00000323568.3:p.Val197Phe
ENST00000461867.1:c.70G>T	ENSP00000418888.1:p.Val24Phe
ENST00000469787.1:c.*56G>T	ENSP00000417918.1:n.*56G>T
ENST00000471379.1:n.300G>T
ENST00000497642.5:c.*56G>T	ENSP00000418456.1:n.*56G>T
NM_000340.1:c.589G>T	NP_000331.1:p.Val197Phe
NM_001278658.1:c.232G>T	NP_001265587.1:p.Val78Phe
NM_001278659.1:c.70G>T	NP_001265588.1:p.Val24Phe
XM_011513087.1:c.544G>T	XP_011511389.1:p.Val182Phe
XM_011513088.1:c.370G>T	XP_011511390.1:p.Val124Phe
XM_011513089.1:c.70G>T	XP_011511391.1:p.Val24Phe
XM_011513087.2:c.544G>T	XP_011511389.1:p.Val182Phe
XM_024453720.1:c.70G>T	XP_024309488.1:p.Val24Phe
NM_000340.2:c.589G>T MANE Select	NP_000331.1:p.Val197Phe
NM_001278658.2:c.232G>T	NP_001265587.1:p.Val78Phe
NM_001278659.2:c.70G>T	NP_001265588.1:p.Val24Phe