Canonical Allele Identifier: CA355488343

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170723148T>G (hg19) ; chr3:g.171005359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171005359T>G , CM000665.2:g.171005359T>G	GRCh38
NC_000003.11:g.170723148T>G , CM000665.1:g.170723148T>G	GRCh37
NC_000003.10:g.172205842T>G	NCBI36
NG_008108.1:g.26621A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.889A>C MANE Select	ENSP00000323568.3:p.Asn297His
ENST00000314251.7:c.889A>C	ENSP00000323568.3:p.Asn297His
ENST00000469787.1:c.*356A>C	ENSP00000417918.1:n.*356A>C
ENST00000497642.5:c.*356A>C	ENSP00000418456.1:n.*356A>C
NM_000340.1:c.889A>C	NP_000331.1:p.Asn297His
NM_001278658.1:c.532A>C	NP_001265587.1:p.Asn178His
NM_001278659.1:c.370A>C	NP_001265588.1:p.Asn124His
XM_011513087.1:c.844A>C	XP_011511389.1:p.Asn282His
XM_011513088.1:c.670A>C	XP_011511390.1:p.Asn224His
XM_011513089.1:c.370A>C	XP_011511391.1:p.Asn124His
XM_011513087.2:c.844A>C	XP_011511389.1:p.Asn282His
XM_024453720.1:c.370A>C	XP_024309488.1:p.Asn124His
NM_000340.2:c.889A>C MANE Select	NP_000331.1:p.Asn297His
NM_001278658.2:c.532A>C	NP_001265587.1:p.Asn178His
NM_001278659.2:c.370A>C	NP_001265588.1:p.Asn124His