Canonical Allele Identifier: CA2586964439
Gene: LAMC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207992_183207993dup , CM000663.2:g.183207992_183207993dup GRCh38
NC_000001.10:g.183177127_183177128dup , CM000663.1:g.183177127_183177128dup GRCh37
NC_000001.9:g.181443750_181443751dup NCBI36
NG_007079.2:g.26729_26730dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.191_192dup MANE Select ENSP00000264144.4:p.Cys65ThrfsTer?
ENST00000264144.4:c.191_192dup ENSP00000264144.4:p.Cys65ThrfsTer?
ENST00000493293.5:c.191_192dup ENSP00000432063.1:p.Cys65ThrfsTer?
NM_005562.2:c.191_192dup NP_005553.2:p.Cys65ThrfsTer?
NM_018891.2:c.191_192dup NP_061486.2:p.Cys65ThrfsTer?
XM_017001273.2:c.191_192dup XP_016856762.1:p.Cys65ThrfsTer?
NM_005562.3:c.191_192dup MANE Select NP_005553.2:p.Cys65ThrfsTer?
NM_018891.3:c.191_192dup NP_061486.2:p.Cys65ThrfsTer?