Canonical Allele Identifier: CA1282237
Gene: LAMC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.183207879A>G
GRCh37 chr1:g.183177014A>G
gnomAD v2:
1:183177014 A / G
gnomAD v3:
1:183207879 A / G
gnomAD v4:
chr1-183207879-A-G
Joint Max Group AF 0.00001054 (NFE)
Genomes Max Group AF 0.00000503 (NFE)
Exomes Max Group AF 0.00000953 (NFE)
ClinVar Allele:
357008
ClinVar RCV:
RCV000412415
RCV001051370
RCV003897828
ClinVar Variation:
371173
dbSNP:
771613805
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207879A>G , CM000663.2:g.183207879A>G GRCh38
NC_000001.10:g.183177014A>G , CM000663.1:g.183177014A>G GRCh37
NC_000001.9:g.181443637A>G NCBI36
NG_007079.2:g.26616A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.80-2A>G MANE Select ENSP00000264144.4:n.80-2A>G
ENST00000264144.4:c.80-2A>G ENSP00000264144.4:n.80-2A>G
ENST00000493293.5:c.80-2A>G ENSP00000432063.1:n.80-2A>G
NM_005562.2:c.80-2A>G NP_005553.2:n.80-2A>G
NM_018891.2:c.80-2A>G NP_061486.2:n.80-2A>G
XM_017001273.2:c.80-2A>G XP_016856762.1:n.80-2A>G
NM_005562.3:c.80-2A>G MANE Select NP_005553.2:n.80-2A>G
NM_018891.3:c.80-2A>G NP_061486.2:n.80-2A>G
Search 100 bp 5'
Search 100 bp 3'