Canonical Allele Identifier: CA355490429

Gene: SLC2A2

Linked Data

• dbSNP Id: rs1469335096
• gnomAD v2: 3-170724966-C-T
• gnomAD v3: 3-171007177-C-T
• gnomAD v4: 3-171007177-C-T
• MyVariant Identifiers: chr3:g.170724966C>T (hg19) ; chr3:g.171007177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007177C>T , CM000665.2:g.171007177C>T	GRCh38
NC_000003.11:g.170724966C>T , CM000665.1:g.170724966C>T	GRCh37
NC_000003.10:g.172207660C>T	NCBI36
NG_008108.1:g.24803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.583G>A MANE Select	ENSP00000323568.3:p.Ala195Thr
ENST00000314251.7:c.583G>A	ENSP00000323568.3:p.Ala195Thr
ENST00000461867.1:c.64G>A	ENSP00000418888.1:p.Ala22Thr
ENST00000469787.1:c.*50G>A	ENSP00000417918.1:n.*50G>A
ENST00000471379.1:n.294G>A
ENST00000497642.5:c.*50G>A	ENSP00000418456.1:n.*50G>A
NM_000340.1:c.583G>A	NP_000331.1:p.Ala195Thr
NM_001278658.1:c.226G>A	NP_001265587.1:p.Ala76Thr
NM_001278659.1:c.64G>A	NP_001265588.1:p.Ala22Thr
XM_011513087.1:c.538G>A	XP_011511389.1:p.Ala180Thr
XM_011513088.1:c.364G>A	XP_011511390.1:p.Ala122Thr
XM_011513089.1:c.64G>A	XP_011511391.1:p.Ala22Thr
XM_011513087.2:c.538G>A	XP_011511389.1:p.Ala180Thr
XM_024453720.1:c.64G>A	XP_024309488.1:p.Ala22Thr
NM_000340.2:c.583G>A MANE Select	NP_000331.1:p.Ala195Thr
NM_001278658.2:c.226G>A	NP_001265587.1:p.Ala76Thr
NM_001278659.2:c.64G>A	NP_001265588.1:p.Ala22Thr