Canonical Allele Identifier: CA2573131304
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1654099
ClinVar RCV Id: RCV002166293
dbSNP Id: rs2102196204
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183207874T>C , CM000663.2:g.183207874T>C GRCh38
NC_000001.10:g.183177009T>C , CM000663.1:g.183177009T>C GRCh37
NC_000001.9:g.181443632T>C NCBI36
NG_007079.2:g.26611T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.80-7T>C MANE Select ENSP00000264144.4:n.80-7T>C
ENST00000264144.4:c.80-7T>C ENSP00000264144.4:n.80-7T>C
ENST00000493293.5:c.80-7T>C ENSP00000432063.1:n.80-7T>C
NM_005562.2:c.80-7T>C NP_005553.2:n.80-7T>C
NM_018891.2:c.80-7T>C NP_061486.2:n.80-7T>C
XM_017001273.2:c.80-7T>C XP_016856762.1:n.80-7T>C
NM_005562.3:c.80-7T>C MANE Select NP_005553.2:n.80-7T>C
NM_018891.3:c.80-7T>C NP_061486.2:n.80-7T>C
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