Canonical Allele Identifier: CA16609523

Gene: SLC18A2

Linked Data

• ClinVar Variation Id: 402145
• ClinVar RCV Id: RCV000454269
• dbSNP Id: rs762879329
• gnomAD v4: 10-117255280-GC-G
• COSMIC: COSM2055061
• MyVariant Identifiers: chr10:g.119014792del (hg19) ; chr10:g.117255281del (hg38)
• PubMed: PMID:26539891

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117255287del , CM000672.2:g.117255287del	GRCh38
NC_000010.10:g.119014798del , CM000672.1:g.119014798del	GRCh37
NC_000010.9:g.119004788del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644641.2:c.711del MANE Select	ENSP00000496339.1:p.Phe238SerfsTer?
ENST00000298472.9:c.711del	ENSP00000298472.5:p.Phe238SerfsTer?
ENST00000497497.1:n.1127del
NM_003054.4:c.711del	NP_003045.2:p.Phe238SerfsTer?
NM_003054.5:c.711del	NP_003045.2:p.Phe238SerfsTer?
NM_003054.6:c.711del MANE Select	NP_003045.2:p.Phe238SerfsTer?