Canonical Allele Identifier: CA5710220
Gene: SLC18A2 HGNC NCBI
COSMIC:
COSM4415647 (not active)
gnomAD v2:
10:119003564 T / G
gnomAD v3:
10:117244053 T / G
gnomAD v4:
chr10-117244053-T-G
Joint Max Group AF 0.2112049 (AMR)
Genomes Max Group AF 0.15196043 (AMR)
Exomes Max Group AF 0.23007067 (AMR)
ClinVar RCV:
RCV001522181
ClinVar Variation:
1170119
dbSNP:
363387
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117244053T>G , CM000672.2:g.117244053T>G GRCh38
NC_000010.10:g.119003564T>G , CM000672.1:g.119003564T>G GRCh37
NC_000010.9:g.118993554T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644641.2:c.204T>G MANE Select ENSP00000496339.1:p.Thr68=
ENST00000298472.9:c.204T>G ENSP00000298472.5:p.Thr68=
ENST00000497497.1:n.347T>G
NM_003054.4:c.204T>G NP_003045.2:p.Thr68=
NM_003054.5:c.204T>G NP_003045.2:p.Thr68=
NM_003054.6:c.204T>G MANE Select NP_003045.2:p.Thr68=
Search 100 bp 5'
Search 100 bp 3'