Canonical Allele Identifier: CA5710568
Gene: SLC18A2 HGNC NCBI
gnomAD v2:
10:119026566 T / C
gnomAD v3:
10:117267055 T / C
gnomAD v4:
chr10-117267055-T-C
Joint Max Group AF 0.8844404 (NFE)
Genomes Max Group AF 0.87893297 (NFE)
Exomes Max Group AF 0.88445883 (NFE)
ClinVar RCV:
RCV001518234
RCV001579760
ClinVar Variation:
1168195
dbSNP:
363227
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117267055T>C , CM000672.2:g.117267055T>C GRCh38
NC_000010.10:g.119026566T>C , CM000672.1:g.119026566T>C GRCh37
NC_000010.9:g.119016556T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644641.2:c.1122+20T>C MANE Select ENSP00000496339.1:n.1122+20T>C
ENST00000298472.9:c.1122+20T>C ENSP00000298472.5:n.1122+20T>C
ENST00000497497.1:n.1538+20T>C
NM_003054.4:c.1122+20T>C NP_003045.2:n.1122+20T>C
NM_003054.5:c.1122+20T>C NP_003045.2:n.1122+20T>C
NM_003054.6:c.1122+20T>C MANE Select NP_003045.2:n.1122+20T>C
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