Canonical Allele Identifier: CA248793
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195603
ClinVar RCV Id: RCV000176210 RCV000407506 RCV000658535
dbSNP Id: rs139043074
ExAC: 1:183209311 C / T
gnomAD v2: 1-183209311-C-T
gnomAD v3: 1-183240176-C-T
gnomAD v4: 1-183240176-C-T
COSMIC: COSM900792
MyVariant Identifiers: chr1:g.183209311C>T (hg19) chr1:g.183240176C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183240176C>T , CM000663.2:g.183240176C>T GRCh38
NC_000001.10:g.183209311C>T , CM000663.1:g.183209311C>T GRCh37
NC_000001.9:g.181475934C>T NCBI36
NG_007079.2:g.58913C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3206C>T MANE Select ENSP00000264144.4:p.Thr1069Met
ENST00000264144.4:c.3206C>T ENSP00000264144.4:p.Thr1069Met
ENST00000461729.1:n.676C>T
ENST00000493293.5:c.3206C>T ENSP00000432063.1:p.Thr1069Met
NM_005562.2:c.3206C>T NP_005553.2:p.Thr1069Met
NM_018891.2:c.3206C>T NP_061486.2:p.Thr1069Met
NM_005562.3:c.3206C>T MANE Select NP_005553.2:p.Thr1069Met
NM_018891.3:c.3206C>T NP_061486.2:p.Thr1069Met
Search 100 bp 5'
Search 100 bp 3'