Canonical Allele Identifier: CA660461860
Gene: SLC18A2 HGNC NCBI

Linked Data

dbSNP Id: rs1444679270
gnomAD v3: 10-117263206-CT-C
gnomAD v4: 10-117263206-CT-C
MyVariant Identifiers: chr10:g.119022718del (hg19) chr10:g.117263207del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117263207del , CM000672.2:g.117263207del GRCh38
NC_000010.10:g.119022718del , CM000672.1:g.119022718del GRCh37
NC_000010.9:g.119012708del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644641.2:c.992-3526del MANE Select ENSP00000496339.1:n.992-3526del
ENST00000298472.9:c.992-3526del ENSP00000298472.5:n.992-3526del
ENST00000497497.1:n.1408-3526del
NM_003054.4:c.992-3526del NP_003045.2:n.992-3526del
NM_003054.5:c.992-3526del NP_003045.2:n.992-3526del
NM_003054.6:c.992-3526del MANE Select NP_003045.2:n.992-3526del
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