Canonical Allele Identifier: CA355490412

Gene: SLC2A2

Linked Data

• dbSNP Id: rs771182536
• gnomAD v3: 3-171007173-A-G
• gnomAD v4: 3-171007173-A-G
• MyVariant Identifiers: chr3:g.170724962A>G (hg19) ; chr3:g.171007173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007173A>G , CM000665.2:g.171007173A>G	GRCh38
NC_000003.11:g.170724962A>G , CM000665.1:g.170724962A>G	GRCh37
NC_000003.10:g.172207656A>G	NCBI36
NG_008108.1:g.24807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.587T>C MANE Select	ENSP00000323568.3:p.Ile196Thr
ENST00000314251.7:c.587T>C	ENSP00000323568.3:p.Ile196Thr
ENST00000461867.1:c.68T>C	ENSP00000418888.1:p.Ile23Thr
ENST00000469787.1:c.*54T>C	ENSP00000417918.1:n.*54T>C
ENST00000471379.1:n.298T>C
ENST00000497642.5:c.*54T>C	ENSP00000418456.1:n.*54T>C
NM_000340.1:c.587T>C	NP_000331.1:p.Ile196Thr
NM_001278658.1:c.230T>C	NP_001265587.1:p.Ile77Thr
NM_001278659.1:c.68T>C	NP_001265588.1:p.Ile23Thr
XM_011513087.1:c.542T>C	XP_011511389.1:p.Ile181Thr
XM_011513088.1:c.368T>C	XP_011511390.1:p.Ile123Thr
XM_011513089.1:c.68T>C	XP_011511391.1:p.Ile23Thr
XM_011513087.2:c.542T>C	XP_011511389.1:p.Ile181Thr
XM_024453720.1:c.68T>C	XP_024309488.1:p.Ile23Thr
NM_000340.2:c.587T>C MANE Select	NP_000331.1:p.Ile196Thr
NM_001278658.2:c.230T>C	NP_001265587.1:p.Ile77Thr
NM_001278659.2:c.68T>C	NP_001265588.1:p.Ile23Thr