Canonical Allele Identifier: CA122780
Gene: SLC5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.31486201del
GRCh37 chr16:g.31497522del
gnomAD v2:
16:31497521 CA / C
gnomAD v3:
16:31486200 CA / C
gnomAD v4:
chr16-31486200-CA-C
Joint Max Group AF 0.0000689 (NFE)
Genomes Max Group AF 0.00006805 (NFE)
Exomes Max Group AF 0.00006522 (NFE)
ClinVar RCV:
RCV000013769
RCV003407325
ClinVar Variation:
12906
dbSNP:
267607067
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31486201del , CM000678.2:g.31486201del GRCh38
NC_000016.9:g.31497522del , CM000678.1:g.31497522del GRCh37
NC_000016.8:g.31405023del NCBI36
NG_012892.1:g.8084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.500del MANE Select ENSP00000327943.3:p.Gln167ArgfsTer20
ENST00000330498.3:c.500del ENSP00000327943.3:p.Gln167ArgfsTer20
ENST00000419665.6:c.500del ENSP00000410601.2:p.Gln167ArgfsTer20
ENST00000565446.1:n.374del
ENST00000569576.5:c.371del ENSP00000455143.1:p.Gln124ArgfsTer20
NM_003041.3:c.500del NP_003032.1:p.Gln167ArgfsTer20
NR_130783.1:n.519del
XM_006721072.2:c.521del XP_006721135.2:p.Gln174ArgfsTer20
XM_006721073.2:c.521del XP_006721136.2:p.Gln174ArgfsTer20
XM_006721072.4:c.521del XP_006721135.2:p.Gln174ArgfsTer20
XM_024450402.1:c.521del XP_024306170.1:p.Gln174ArgfsTer20
NM_003041.4:c.500del MANE Select NP_003032.1:p.Gln167ArgfsTer20
NR_130783.2:n.514del
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