Canonical Allele Identifier: CA436774860

Gene: SLC2A2

Linked Data

• gnomAD v4: 3-171005351-G-A
• MyVariant Identifiers: chr3:g.170723140G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171005351G>A , CM000665.2:g.171005351G>A	GRCh38
NC_000003.11:g.170723140G>A , CM000665.1:g.170723140G>A	GRCh37
NC_000003.10:g.172205834G>A	NCBI36
NG_008108.1:g.26629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.897C>T MANE Select	ENSP00000323568.3:p.Ser299=
ENST00000314251.7:c.897C>T	ENSP00000323568.3:p.Ser299=
ENST00000469787.1:c.*364C>T	ENSP00000417918.1:n.*364C>T
ENST00000497642.5:c.*364C>T	ENSP00000418456.1:n.*364C>T
NM_000340.1:c.897C>T	NP_000331.1:p.Ser299=
NM_001278658.1:c.540C>T	NP_001265587.1:p.Ser180=
NM_001278659.1:c.378C>T	NP_001265588.1:p.Ser126=
XM_011513087.1:c.852C>T	XP_011511389.1:p.Ser284=
XM_011513088.1:c.678C>T	XP_011511390.1:p.Ser226=
XM_011513089.1:c.378C>T	XP_011511391.1:p.Ser126=
XM_011513087.2:c.852C>T	XP_011511389.1:p.Ser284=
XM_024453720.1:c.378C>T	XP_024309488.1:p.Ser126=
NM_000340.2:c.897C>T MANE Select	NP_000331.1:p.Ser299=
NM_001278658.2:c.540C>T	NP_001265587.1:p.Ser180=
NM_001278659.2:c.378C>T	NP_001265588.1:p.Ser126=