Canonical Allele Identifier: CA932968203
Gene: SLC18A2 HGNC NCBI

Linked Data

dbSNP Id: rs567501234
gnomAD v3: 10-117263040-G-A
gnomAD v4: 10-117263040-G-A
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Genomic Alleles

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

Transcript Alleles

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