Canonical Allele Identifier: CA10608875

Gene: LAMC2

Linked Data

• ClinVar Variation Id: 293975
• ClinVar RCV Id: RCV000269193 ; RCV001618504
• dbSNP Id: rs2276544
• gnomAD v2: 1-183155228-C-A
• gnomAD v3: 1-183186093-C-A
• gnomAD v4: 1-183186093-C-A
• MyVariant Identifiers: chr1:g.183155228C>A (hg19) ; chr1:g.183186093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183186093C>A , CM000663.2:g.183186093C>A	GRCh38
NC_000001.10:g.183155228C>A , CM000663.1:g.183155228C>A	GRCh37
NC_000001.9:g.181421851C>A	NCBI36
NG_007079.2:g.4830C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005562.2:c.-260C>A	NP_005553.2:n.-260C>A
NM_018891.2:c.-260C>A	NP_061486.2:n.-260C>A