Canonical Allele Identifier: CA2649468369
Gene: LAMC2 HGNC NCBI

Linked Data

gnomAD v4: 1-183243089-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243089T>C , CM000663.2:g.183243089T>C GRCh38
NC_000001.10:g.183212224T>C , CM000663.1:g.183212224T>C GRCh37
NC_000001.9:g.181478847T>C NCBI36
NG_007079.2:g.61826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3329-58T>C MANE Select ENSP00000264144.4:n.3329-58T>C
ENST00000264144.4:c.3329-58T>C ENSP00000264144.4:n.3329-58T>C
NM_005562.2:c.3329-58T>C NP_005553.2:n.3329-58T>C
NM_005562.3:c.3329-58T>C MANE Select NP_005553.2:n.3329-58T>C
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