Canonical Allele Identifier: CA2649467496
Gene: LAMC2 HGNC NCBI

Linked Data

gnomAD v4: 1-183239957-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183239957A>T , CM000663.2:g.183239957A>T GRCh38
NC_000001.10:g.183209092A>T , CM000663.1:g.183209092A>T GRCh37
NC_000001.9:g.181475715A>T NCBI36
NG_007079.2:g.58694A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3070-83A>T MANE Select ENSP00000264144.4:n.3070-83A>T
ENST00000264144.4:c.3070-83A>T ENSP00000264144.4:n.3070-83A>T
ENST00000461729.1:n.457A>T
ENST00000493293.5:c.3070-83A>T ENSP00000432063.1:n.3070-83A>T
NM_005562.2:c.3070-83A>T NP_005553.2:n.3070-83A>T
NM_018891.2:c.3070-83A>T NP_061486.2:n.3070-83A>T
NM_005562.3:c.3070-83A>T MANE Select NP_005553.2:n.3070-83A>T
NM_018891.3:c.3070-83A>T NP_061486.2:n.3070-83A>T
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