Canonical Allele Identifier: CA355485914

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170716104T>G (hg19) ; chr3:g.170998315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998315T>G , CM000665.2:g.170998315T>G	GRCh38
NC_000003.11:g.170716104T>G , CM000665.1:g.170716104T>G	GRCh37
NC_000003.10:g.172198798T>G	NCBI36
NG_008108.1:g.33665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1252A>C MANE Select	ENSP00000323568.3:p.Ile418Leu
ENST00000314251.7:c.1252A>C	ENSP00000323568.3:p.Ile418Leu
ENST00000469787.1:c.*719A>C	ENSP00000417918.1:n.*719A>C
ENST00000497642.5:c.*719A>C	ENSP00000418456.1:n.*719A>C
NM_000340.1:c.1252A>C	NP_000331.1:p.Ile418Leu
NM_001278658.1:c.895A>C	NP_001265587.1:p.Ile299Leu
NM_001278659.1:c.733A>C	NP_001265588.1:p.Ile245Leu
XM_011513087.1:c.1207A>C	XP_011511389.1:p.Ile403Leu
XM_011513088.1:c.1033A>C	XP_011511390.1:p.Ile345Leu
XM_011513089.1:c.733A>C	XP_011511391.1:p.Ile245Leu
XM_011513087.2:c.1207A>C	XP_011511389.1:p.Ile403Leu
XM_024453720.1:c.733A>C	XP_024309488.1:p.Ile245Leu
NM_000340.2:c.1252A>C MANE Select	NP_000331.1:p.Ile418Leu
NM_001278658.2:c.895A>C	NP_001265587.1:p.Ile299Leu
NM_001278659.2:c.733A>C	NP_001265588.1:p.Ile245Leu