Canonical Allele Identifier: CA1282217
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs761490850
ExAC: 1:183176985 TGACGATC / T
gnomAD v2: 1-183176985-TGACGATC-T
gnomAD v3: 1-183207850-TGACGATC-T
gnomAD v4: 1-183207850-TGACGATC-T
MyVariant Identifiers: chr1:g.183176986_183176992del (hg19) chr1:g.183176986_183176994delinsTC (hg19) chr1:g.183207851_183207857del (hg38) chr1:g.183207851_183207859delinsTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207851_183207857del , CM000663.2:g.183207851_183207857del GRCh38
NC_000001.10:g.183176986_183176992del , CM000663.1:g.183176986_183176992del GRCh37
NC_000001.9:g.181443609_181443615del NCBI36
NG_007079.2:g.26588_26594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.80-30_80-24del MANE Select ENSP00000264144.4:n.80-30_80-24del
ENST00000264144.4:c.80-30_80-24del ENSP00000264144.4:n.80-30_80-24del
ENST00000493293.5:c.80-30_80-24del ENSP00000432063.1:n.80-30_80-24del
NM_005562.2:c.80-30_80-24del NP_005553.2:n.80-30_80-24del
NM_018891.2:c.80-30_80-24del NP_061486.2:n.80-30_80-24del
XM_017001273.2:c.80-30_80-24del XP_016856762.1:n.80-30_80-24del
NM_005562.3:c.80-30_80-24del MANE Select NP_005553.2:n.80-30_80-24del
NM_018891.3:c.80-30_80-24del NP_061486.2:n.80-30_80-24del
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