Canonical Allele Identifier: CA355485916

Gene: SLC2A2

Linked Data

• gnomAD v4: 3-170998318-G-A
• MyVariant Identifiers: chr3:g.170716107G>A (hg19) ; chr3:g.170998318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998318G>A , CM000665.2:g.170998318G>A	GRCh38
NC_000003.11:g.170716107G>A , CM000665.1:g.170716107G>A	GRCh37
NC_000003.10:g.172198801G>A	NCBI36
NG_008108.1:g.33662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1249C>T MANE Select	ENSP00000323568.3:p.Pro417Ser
ENST00000314251.7:c.1249C>T	ENSP00000323568.3:p.Pro417Ser
ENST00000469787.1:c.*716C>T	ENSP00000417918.1:n.*716C>T
ENST00000497642.5:c.*716C>T	ENSP00000418456.1:n.*716C>T
NM_000340.1:c.1249C>T	NP_000331.1:p.Pro417Ser
NM_001278658.1:c.892C>T	NP_001265587.1:p.Pro298Ser
NM_001278659.1:c.730C>T	NP_001265588.1:p.Pro244Ser
XM_011513087.1:c.1204C>T	XP_011511389.1:p.Pro402Ser
XM_011513088.1:c.1030C>T	XP_011511390.1:p.Pro344Ser
XM_011513089.1:c.730C>T	XP_011511391.1:p.Pro244Ser
XM_011513087.2:c.1204C>T	XP_011511389.1:p.Pro402Ser
XM_024453720.1:c.730C>T	XP_024309488.1:p.Pro244Ser
NM_000340.2:c.1249C>T MANE Select	NP_000331.1:p.Pro417Ser
NM_001278658.2:c.892C>T	NP_001265587.1:p.Pro298Ser
NM_001278659.2:c.730C>T	NP_001265588.1:p.Pro244Ser