Canonical Allele Identifier: CA355490419

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170724963T>G (hg19) ; chr3:g.171007174T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.586A>C MANE Select	ENSP00000323568.3:p.Ile196Leu
ENST00000314251.7:c.586A>C	ENSP00000323568.3:p.Ile196Leu
ENST00000461867.1:c.67A>C	ENSP00000418888.1:p.Ile23Leu
ENST00000469787.1:c.*53A>C	ENSP00000417918.1:n.*53A>C
ENST00000471379.1:n.297A>C
ENST00000497642.5:c.*53A>C	ENSP00000418456.1:n.*53A>C
NM_000340.1:c.586A>C	NP_000331.1:p.Ile196Leu
NM_001278658.1:c.229A>C	NP_001265587.1:p.Ile77Leu
NM_001278659.1:c.67A>C	NP_001265588.1:p.Ile23Leu
XM_011513087.1:c.541A>C	XP_011511389.1:p.Ile181Leu
XM_011513088.1:c.367A>C	XP_011511390.1:p.Ile123Leu
XM_011513089.1:c.67A>C	XP_011511391.1:p.Ile23Leu
XM_011513087.2:c.541A>C	XP_011511389.1:p.Ile181Leu
XM_024453720.1:c.67A>C	XP_024309488.1:p.Ile23Leu
NM_000340.2:c.586A>C MANE Select	NP_000331.1:p.Ile196Leu
NM_001278658.2:c.229A>C	NP_001265587.1:p.Ile77Leu
NM_001278659.2:c.67A>C	NP_001265588.1:p.Ile23Leu