Canonical Allele Identifier: CA10586213
Gene: SLC5A2 HGNC NCBI
COSMIC:
COSM970297
MyVariant.info:
GRCh38 chr16:g.31484885G>A
GRCh37 chr16:g.31496206G>A
Revel Score:
ENST00000330498 (MANE Select) 0.877
ENST00000419665 0.877
gnomAD v2:
16:31496206 G / A
gnomAD v4:
chr16-31484885-G-A
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar Allele:
247547
ClinVar RCV:
RCV000239563
ClinVar Variation:
253135
dbSNP:
886037850
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31484885G>A , CM000678.2:g.31484885G>A GRCh38
NC_000016.9:g.31496206G>A , CM000678.1:g.31496206G>A GRCh37
NC_000016.8:g.31403707G>A NCBI36
NG_012892.1:g.6768G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.265G>A MANE Select ENSP00000327943.3:p.Ala89Thr
ENST00000330498.3:c.265G>A ENSP00000327943.3:p.Ala89Thr
ENST00000419665.6:c.265G>A ENSP00000410601.2:p.Ala89Thr
ENST00000562006.1:n.264G>A
ENST00000565446.1:n.139G>A
ENST00000569576.5:c.136G>A ENSP00000455143.1:p.Ala46Thr
NM_003041.3:c.265G>A NP_003032.1:p.Ala89Thr
NR_130783.1:n.284G>A
XM_006721072.2:c.286G>A XP_006721135.2:p.Ala96Thr
XM_006721073.2:c.286G>A XP_006721136.2:p.Ala96Thr
XM_006721072.4:c.286G>A XP_006721135.2:p.Ala96Thr
XM_024450402.1:c.286G>A XP_024306170.1:p.Ala96Thr
NM_003041.4:c.265G>A MANE Select NP_003032.1:p.Ala89Thr
NR_130783.2:n.279G>A
Search 100 bp 5'
Search 100 bp 3'