Canonical Allele Identifier: CA16040685
Gene: LAMC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371294
ClinVar RCV Id: RCV000409389
dbSNP Id: rs1057517159

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240117dup , CM000663.2:g.183240117dup GRCh38
NC_000001.10:g.183209252dup , CM000663.1:g.183209252dup GRCh37
NC_000001.9:g.181475875dup NCBI36
NG_007079.2:g.58854dup

Transcript Alleles

HGVS Amino-acid change
NM_005562.2:c.3147dup VV NP_005553.2:p.Lys1050GlufsTer3
NM_018891.2:c.3147dup VV NP_061486.2:p.Lys1050GlufsTer3
ENST00000264144.4:c.3147dup ENSP00000264144.4:p.Lys1050GlufsTer3
ENST00000461729.1:n.617dup
ENST00000493293.5:c.3147dup ENSP00000432063.1:p.Lys1050GlufsTer3