Canonical Allele Identifier: CA214689697
Gene: SLC18A2 HGNC NCBI

Linked Data

dbSNP Id: rs567501234
gnomAD v2: 10-119022551-G-C
gnomAD v3: 10-117263040-G-C
gnomAD v4: 10-117263040-G-C
MyVariant Identifiers: chr10:g.119022551G>C (hg19) chr10:g.117263040G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117263040G>C , CM000672.2:g.117263040G>C GRCh38
NC_000010.10:g.119022551G>C , CM000672.1:g.119022551G>C GRCh37
NC_000010.9:g.119012541G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644641.2:c.992-3693G>C MANE Select ENSP00000496339.1:n.992-3693G>C
ENST00000298472.9:c.992-3693G>C ENSP00000298472.5:n.992-3693G>C
ENST00000497497.1:n.1408-3693G>C
NM_003054.4:c.992-3693G>C NP_003045.2:n.992-3693G>C
NM_003054.5:c.992-3693G>C NP_003045.2:n.992-3693G>C
NM_003054.6:c.992-3693G>C MANE Select NP_003045.2:n.992-3693G>C
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