Canonical Allele Identifier: CA1283244
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 259788
ClinVar RCV Id: RCV000245823 RCV000305811 RCV001521608
dbSNP Id: rs587281
ExAC: 1:183212320 C / T
gnomAD v2: 1-183212320-C-T
gnomAD v3: 1-183243185-C-T
gnomAD v4: 1-183243185-C-T
MyVariant Identifiers: chr1:g.183212320C>T (hg19) chr1:g.183243185C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243185C>T , CM000663.2:g.183243185C>T GRCh38
NC_000001.10:g.183212320C>T , CM000663.1:g.183212320C>T GRCh37
NC_000001.9:g.181478943C>T NCBI36
NG_007079.2:g.61922C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3367C>T MANE Select ENSP00000264144.4:p.Leu1123=
ENST00000264144.4:c.3367C>T ENSP00000264144.4:p.Leu1123=
NM_005562.2:c.3367C>T NP_005553.2:p.Leu1123=
NM_005562.3:c.3367C>T MANE Select NP_005553.2:p.Leu1123=
Search 100 bp 5'
Search 100 bp 3'