Canonical Allele Identifier: CA355490417

Gene: SLC2A2

Linked Data

• gnomAD v4: 3-171007174-T-C
• MyVariant Identifiers: chr3:g.170724963T>C (hg19) ; chr3:g.171007174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007174T>C , CM000665.2:g.171007174T>C	GRCh38
NC_000003.11:g.170724963T>C , CM000665.1:g.170724963T>C	GRCh37
NC_000003.10:g.172207657T>C	NCBI36
NG_008108.1:g.24806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.586A>G MANE Select	ENSP00000323568.3:p.Ile196Val
ENST00000314251.7:c.586A>G	ENSP00000323568.3:p.Ile196Val
ENST00000461867.1:c.67A>G	ENSP00000418888.1:p.Ile23Val
ENST00000469787.1:c.*53A>G	ENSP00000417918.1:n.*53A>G
ENST00000471379.1:n.297A>G
ENST00000497642.5:c.*53A>G	ENSP00000418456.1:n.*53A>G
NM_000340.1:c.586A>G	NP_000331.1:p.Ile196Val
NM_001278658.1:c.229A>G	NP_001265587.1:p.Ile77Val
NM_001278659.1:c.67A>G	NP_001265588.1:p.Ile23Val
XM_011513087.1:c.541A>G	XP_011511389.1:p.Ile181Val
XM_011513088.1:c.367A>G	XP_011511390.1:p.Ile123Val
XM_011513089.1:c.67A>G	XP_011511391.1:p.Ile23Val
XM_011513087.2:c.541A>G	XP_011511389.1:p.Ile181Val
XM_024453720.1:c.67A>G	XP_024309488.1:p.Ile23Val
NM_000340.2:c.586A>G MANE Select	NP_000331.1:p.Ile196Val
NM_001278658.2:c.229A>G	NP_001265587.1:p.Ile77Val
NM_001278659.2:c.67A>G	NP_001265588.1:p.Ile23Val