Canonical Allele Identifier: CA343660215
Gene: LAMC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.183209187C>A (hg19) chr1:g.183240052C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240052C>A , CM000663.2:g.183240052C>A GRCh38
NC_000001.10:g.183209187C>A , CM000663.1:g.183209187C>A GRCh37
NC_000001.9:g.181475810C>A NCBI36
NG_007079.2:g.58789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3082C>A MANE Select ENSP00000264144.4:p.Leu1028Met
ENST00000264144.4:c.3082C>A ENSP00000264144.4:p.Leu1028Met
ENST00000461729.1:n.552C>A
ENST00000493293.5:c.3082C>A ENSP00000432063.1:p.Leu1028Met
NM_005562.2:c.3082C>A NP_005553.2:p.Leu1028Met
NM_018891.2:c.3082C>A NP_061486.2:p.Leu1028Met
NM_005562.3:c.3082C>A MANE Select NP_005553.2:p.Leu1028Met
NM_018891.3:c.3082C>A NP_061486.2:p.Leu1028Met
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