Canonical Allele Identifier: CA981235166
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1228262207
gnomAD v3: 17-8159232-G-C
gnomAD v4: 17-8159232-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159232G>C , CM000679.2:g.8159232G>C GRCh38
NC_000017.10:g.8062550G>C , CM000679.1:g.8062550G>C GRCh37
NC_000017.9:g.8003275G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1623C>G MANE Select ENSP00000314214.6:n.*1623C>G
ENST00000316509.10:c.*1623C>G ENSP00000314214.6:n.*1623C>G
ENST00000498285.1:c.334+2241C>G ENSP00000464383.1:n.334+2241C>G
NM_014232.2:c.*1623C>G NP_055047.2:n.*1623C>G
NM_001330125.1:c.*1623C>G NP_001317054.1:n.*1623C>G
NM_014232.3:c.*1623C>G MANE Select NP_055047.2:n.*1623C>G
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