Canonical Allele Identifier: CA436772996

Gene: SLC2A2

Linked Data

• dbSNP Id: rs1309197020
• gnomAD v2: 3-170716102-G-T
• gnomAD v4: 3-170998313-G-T
• MyVariant Identifiers: chr3:g.170716102G>T (hg19) ; chr3:g.170998313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998313G>T , CM000665.2:g.170998313G>T	GRCh38
NC_000003.11:g.170716102G>T , CM000665.1:g.170716102G>T	GRCh37
NC_000003.10:g.172198796G>T	NCBI36
NG_008108.1:g.33667C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.1254C>A MANE Select	ENSP00000323568.3:p.Ile418=
ENST00000314251.7:c.1254C>A	ENSP00000323568.3:p.Ile418=
ENST00000469787.1:c.*721C>A	ENSP00000417918.1:n.*721C>A
ENST00000497642.5:c.*721C>A	ENSP00000418456.1:n.*721C>A
NM_000340.1:c.1254C>A	NP_000331.1:p.Ile418=
NM_001278658.1:c.897C>A	NP_001265587.1:p.Ile299=
NM_001278659.1:c.735C>A	NP_001265588.1:p.Ile245=
XM_011513087.1:c.1209C>A	XP_011511389.1:p.Ile403=
XM_011513088.1:c.1035C>A	XP_011511390.1:p.Ile345=
XM_011513089.1:c.735C>A	XP_011511391.1:p.Ile245=
XM_011513087.2:c.1209C>A	XP_011511389.1:p.Ile403=
XM_024453720.1:c.735C>A	XP_024309488.1:p.Ile245=
NM_000340.2:c.1254C>A MANE Select	NP_000331.1:p.Ile418=
NM_001278658.2:c.897C>A	NP_001265587.1:p.Ile299=
NM_001278659.2:c.735C>A	NP_001265588.1:p.Ile245=