Canonical Allele Identifier: CA019289
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 202196
ClinVar RCV Id: RCV000184042 RCV000224228 RCV001333547
dbSNP Id: rs794729221
MyVariant Identifiers: chr1:g.43395407G>A (hg19) chr1:g.42929736G>A (hg38)
PubMed: PMID:18606970 PMID:20301603 PMID:25167861
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929736G>A , CM000663.2:g.42929736G>A GRCh38
NC_000001.10:g.43395407G>A , CM000663.1:g.43395407G>A GRCh37
NC_000001.9:g.43167994G>A NCBI36
NG_008232.1:g.34441C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.724C>T MANE Select ENSP00000416293.2:p.Gln242Ter
ENST00000669445.1:c.57-3C>T
ENST00000674765.1:c.724C>T ENSP00000501811.1:p.Gln242Ter
ENST00000675112.1:n.747C>T
ENST00000676254.1:n.1173C>T
ENST00000426263.7:c.724C>T ENSP00000416293.2:p.Gln242Ter
ENST00000439722.2:c.603C>T ENSP00000395521.2:n.603C>T
ENST00000475162.3:c.415+890C>T
ENST00000630287.2:c.*39C>T ENSP00000486694.1:n.*39C>T
NM_006516.2:c.724C>T NP_006507.2:p.Gln242Ter
NM_006516.3:c.724C>T NP_006507.2:p.Gln242Ter
NM_006516.4:c.724C>T MANE Select NP_006507.2:p.Gln242Ter
Search 100 bp 5'
Search 100 bp 3'