Canonical Allele Identifier: CA019988

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170999069A>G , CM000665.2:g.170999069A>G	GRCh38
NC_000003.11:g.170716858A>G , CM000665.1:g.170716858A>G	GRCh37
NC_000003.10:g.172199552A>G	NCBI36
NG_008108.1:g.32911T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000340.2:c.1166T>C MANE Select	NP_000331.1:p.Leu389Pro
ENST00000314251.8:c.1166T>C MANE Select	ENSP00000323568.3:p.Leu389Pro
NM_000340.1:c.1166T>C	NP_000331.1:p.Leu389Pro
NM_001278658.1:c.809T>C	NP_001265587.1:p.Leu270Pro
NM_001278658.2:c.809T>C	NP_001265587.1:p.Leu270Pro
NM_001278659.1:c.647T>C	NP_001265588.1:p.Leu216Pro
NM_001278659.2:c.647T>C	NP_001265588.1:p.Leu216Pro
ENST00000314251.7:c.1166T>C	ENSP00000323568.3:p.Leu389Pro
ENST00000469787.1:c.*633T>C	ENSP00000417918.1:n.*633T>C
ENST00000497642.5:c.*633T>C	ENSP00000418456.1:n.*633T>C
XM_011513087.1:c.1121T>C	XP_011511389.1:p.Leu374Pro
XM_011513087.2:c.1121T>C	XP_011511389.1:p.Leu374Pro
XM_011513088.1:c.947T>C	XP_011511390.1:p.Leu316Pro
XM_011513089.1:c.647T>C	XP_011511391.1:p.Leu216Pro
XM_024453720.1:c.647T>C	XP_024309488.1:p.Leu216Pro