Canonical Allele Identifier: CA1283154
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1925644
ClinVar RCV Id: RCV002626037
dbSNP Id: rs201956884
ExAC: 1:183209191 A / C
gnomAD v2: 1-183209191-A-C
gnomAD v4: 1-183240056-A-C
MyVariant Identifiers: chr1:g.183209191A>C (hg19) chr1:g.183240056A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240056A>C , CM000663.2:g.183240056A>C GRCh38
NC_000001.10:g.183209191A>C , CM000663.1:g.183209191A>C GRCh37
NC_000001.9:g.181475814A>C NCBI36
NG_007079.2:g.58793A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3086A>C MANE Select ENSP00000264144.4:p.Asn1029Thr
ENST00000264144.4:c.3086A>C ENSP00000264144.4:p.Asn1029Thr
ENST00000461729.1:n.556A>C
ENST00000493293.5:c.3086A>C ENSP00000432063.1:p.Asn1029Thr
NM_005562.2:c.3086A>C NP_005553.2:p.Asn1029Thr
NM_018891.2:c.3086A>C NP_061486.2:p.Asn1029Thr
NM_005562.3:c.3086A>C MANE Select NP_005553.2:p.Asn1029Thr
NM_018891.3:c.3086A>C NP_061486.2:p.Asn1029Thr
Search 100 bp 5'
Search 100 bp 3'