Canonical Allele Identifier: CA1282235
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 293986
ClinVar RCV Id: RCV000392166 RCV000882306
dbSNP Id: rs78056473
ExAC: 1:183177010 C / T
gnomAD v2: 1-183177010-C-T
gnomAD v3: 1-183207875-C-T
gnomAD v4: 1-183207875-C-T
MyVariant Identifiers: chr1:g.183177010C>T (hg19) chr1:g.183207875C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207875C>T , CM000663.2:g.183207875C>T GRCh38
NC_000001.10:g.183177010C>T , CM000663.1:g.183177010C>T GRCh37
NC_000001.9:g.181443633C>T NCBI36
NG_007079.2:g.26612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.80-6C>T MANE Select ENSP00000264144.4:n.80-6C>T
ENST00000264144.4:c.80-6C>T ENSP00000264144.4:n.80-6C>T
ENST00000493293.5:c.80-6C>T ENSP00000432063.1:n.80-6C>T
NM_005562.2:c.80-6C>T NP_005553.2:n.80-6C>T
NM_018891.2:c.80-6C>T NP_061486.2:n.80-6C>T
XM_017001273.2:c.80-6C>T XP_016856762.1:n.80-6C>T
NM_005562.3:c.80-6C>T MANE Select NP_005553.2:n.80-6C>T
NM_018891.3:c.80-6C>T NP_061486.2:n.80-6C>T
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