Canonical Allele Identifier: CA436772997

Gene: SLC2A2

Linked Data

• dbSNP Id: rs371657103
• gnomAD v3: 3-170998316-C-A
• gnomAD v4: 3-170998316-C-A
• MyVariant Identifiers: chr3:g.170716105C>A (hg19) ; chr3:g.170998316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998316C>A , CM000665.2:g.170998316C>A	GRCh38
NC_000003.11:g.170716105C>A , CM000665.1:g.170716105C>A	GRCh37
NC_000003.10:g.172198799C>A	NCBI36
NG_008108.1:g.33664G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.1251G>T MANE Select	ENSP00000323568.3:p.Pro417=
ENST00000314251.7:c.1251G>T	ENSP00000323568.3:p.Pro417=
ENST00000469787.1:c.*718G>T	ENSP00000417918.1:n.*718G>T
ENST00000497642.5:c.*718G>T	ENSP00000418456.1:n.*718G>T
NM_000340.1:c.1251G>T	NP_000331.1:p.Pro417=
NM_001278658.1:c.894G>T	NP_001265587.1:p.Pro298=
NM_001278659.1:c.732G>T	NP_001265588.1:p.Pro244=
XM_011513087.1:c.1206G>T	XP_011511389.1:p.Pro402=
XM_011513088.1:c.1032G>T	XP_011511390.1:p.Pro344=
XM_011513089.1:c.732G>T	XP_011511391.1:p.Pro244=
XM_011513087.2:c.1206G>T	XP_011511389.1:p.Pro402=
XM_024453720.1:c.732G>T	XP_024309488.1:p.Pro244=
NM_000340.2:c.1251G>T MANE Select	NP_000331.1:p.Pro417=
NM_001278658.2:c.894G>T	NP_001265587.1:p.Pro298=
NM_001278659.2:c.732G>T	NP_001265588.1:p.Pro244=