Canonical Allele Identifier: CA355485911

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170716103A>G (hg19) ; chr3:g.170998314A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998314A>G , CM000665.2:g.170998314A>G	GRCh38
NC_000003.11:g.170716103A>G , CM000665.1:g.170716103A>G	GRCh37
NC_000003.10:g.172198797A>G	NCBI36
NG_008108.1:g.33666T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.1253T>C MANE Select	ENSP00000323568.3:p.Ile418Thr
ENST00000314251.7:c.1253T>C	ENSP00000323568.3:p.Ile418Thr
ENST00000469787.1:c.*720T>C	ENSP00000417918.1:n.*720T>C
ENST00000497642.5:c.*720T>C	ENSP00000418456.1:n.*720T>C
NM_000340.1:c.1253T>C	NP_000331.1:p.Ile418Thr
NM_001278658.1:c.896T>C	NP_001265587.1:p.Ile299Thr
NM_001278659.1:c.734T>C	NP_001265588.1:p.Ile245Thr
XM_011513087.1:c.1208T>C	XP_011511389.1:p.Ile403Thr
XM_011513088.1:c.1034T>C	XP_011511390.1:p.Ile345Thr
XM_011513089.1:c.734T>C	XP_011511391.1:p.Ile245Thr
XM_011513087.2:c.1208T>C	XP_011511389.1:p.Ile403Thr
XM_024453720.1:c.734T>C	XP_024309488.1:p.Ile245Thr
NM_000340.2:c.1253T>C MANE Select	NP_000331.1:p.Ile418Thr
NM_001278658.2:c.896T>C	NP_001265587.1:p.Ile299Thr
NM_001278659.2:c.734T>C	NP_001265588.1:p.Ile245Thr