Canonical Allele Identifier: CA16040681
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370537
ClinVar RCV Id: RCV000411591
dbSNP Id: rs1057516569

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183232299_183232300del , CM000663.2:g.183232299_183232300del GRCh38
NC_000001.10:g.183201434_183201435del , CM000663.1:g.183201434_183201435del GRCh37
NC_000001.9:g.181468057_181468058del NCBI36
NG_007079.2:g.51036_51037del

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.1970_1971del MANE Select ENSP00000264144.4:p.Glu657AlafsTer17
ENST00000264144.4:c.1970_1971del ENSP00000264144.4:p.Glu657AlafsTer17
ENST00000493293.5:c.1970_1971del ENSP00000432063.1:p.Glu657AlafsTer17
NM_005562.2:c.1970_1971del NP_005553.2:p.Glu657AlafsTer17
NM_018891.2:c.1970_1971del NP_061486.2:p.Glu657AlafsTer17
XM_017001273.2:c.1970_1971del XP_016856762.1:p.Glu657AlafsTer17
NM_005562.3:c.1970_1971del MANE Select NP_005553.2:p.Glu657AlafsTer17
NM_018891.3:c.1970_1971del NP_061486.2:p.Glu657AlafsTer17