Canonical Allele Identifier: CA355485875

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998299A>G , CM000665.2:g.170998299A>G	GRCh38
NC_000003.11:g.170716088A>G , CM000665.1:g.170716088A>G	GRCh37
NC_000003.10:g.172198782A>G	NCBI36
NG_008108.1:g.33681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1268T>C MANE Select	ENSP00000323568.3:p.Val423Ala
ENST00000314251.7:c.1268T>C	ENSP00000323568.3:p.Val423Ala
ENST00000469787.1:c.*735T>C	ENSP00000417918.1:n.*735T>C
ENST00000497642.5:c.*735T>C	ENSP00000418456.1:n.*735T>C
NM_000340.1:c.1268T>C	NP_000331.1:p.Val423Ala
NM_001278658.1:c.911T>C	NP_001265587.1:p.Val304Ala
NM_001278659.1:c.749T>C	NP_001265588.1:p.Val250Ala
XM_011513087.1:c.1223T>C	XP_011511389.1:p.Val408Ala
XM_011513088.1:c.1049T>C	XP_011511390.1:p.Val350Ala
XM_011513089.1:c.749T>C	XP_011511391.1:p.Val250Ala
XM_011513087.2:c.1223T>C	XP_011511389.1:p.Val408Ala
XM_024453720.1:c.749T>C	XP_024309488.1:p.Val250Ala
NM_000340.2:c.1268T>C MANE Select	NP_000331.1:p.Val423Ala
NM_001278658.2:c.911T>C	NP_001265587.1:p.Val304Ala
NM_001278659.2:c.749T>C	NP_001265588.1:p.Val250Ala