Canonical Allele Identifier: CA527643150
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2911050
ClinVar RCV Id: RCV003737425
dbSNP Id: rs1272178808
gnomAD v2: 1-183201307-C-T
gnomAD v4: 1-183232172-C-T
MyVariant Identifiers: chr1:g.183201307C>T (hg19) chr1:g.183232172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183232172C>T , CM000663.2:g.183232172C>T GRCh38
NC_000001.10:g.183201307C>T , CM000663.1:g.183201307C>T GRCh37
NC_000001.9:g.181467930C>T NCBI36
NG_007079.2:g.50909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.1858-15C>T MANE Select ENSP00000264144.4:n.1858-15C>T
ENST00000264144.4:c.1858-15C>T ENSP00000264144.4:n.1858-15C>T
ENST00000493293.5:c.1858-15C>T ENSP00000432063.1:n.1858-15C>T
NM_005562.2:c.1858-15C>T NP_005553.2:n.1858-15C>T
NM_018891.2:c.1858-15C>T NP_061486.2:n.1858-15C>T
XM_017001273.2:c.1858-15C>T XP_016856762.1:n.1858-15C>T
NM_005562.3:c.1858-15C>T MANE Select NP_005553.2:n.1858-15C>T
NM_018891.3:c.1858-15C>T NP_061486.2:n.1858-15C>T
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