Canonical Allele Identifier: CA33947078
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1236565
ClinVar RCV Id: RCV001639080
dbSNP Id: rs2477437
gnomAD v2: 1-183209079-C-T
gnomAD v3: 1-183239944-C-T
gnomAD v4: 1-183239944-C-T
MyVariant Identifiers: chr1:g.183209079C>T (hg19) chr1:g.183239944C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183239944C>T , CM000663.2:g.183239944C>T GRCh38
NC_000001.10:g.183209079C>T , CM000663.1:g.183209079C>T GRCh37
NC_000001.9:g.181475702C>T NCBI36
NG_007079.2:g.58681C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3070-96C>T MANE Select ENSP00000264144.4:n.3070-96C>T
ENST00000264144.4:c.3070-96C>T ENSP00000264144.4:n.3070-96C>T
ENST00000461729.1:n.444C>T
ENST00000493293.5:c.3070-96C>T ENSP00000432063.1:n.3070-96C>T
NM_005562.2:c.3070-96C>T NP_005553.2:n.3070-96C>T
NM_018891.2:c.3070-96C>T NP_061486.2:n.3070-96C>T
NM_005562.3:c.3070-96C>T MANE Select NP_005553.2:n.3070-96C>T
NM_018891.3:c.3070-96C>T NP_061486.2:n.3070-96C>T
Search 100 bp 5'
Search 100 bp 3'