Canonical Allele Identifier: CA1282994
Gene: LAMC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.183236593C>G
GRCh37 chr1:g.183205728C>G
Revel Score:
ENST00000493293 0.059
ENST00000537180 0.059
ENST00000264144 (MANE Select) 0.059
gnomAD v2:
1:183205728 C / G
gnomAD v4:
chr1-183236593-C-G
Joint Max Group AF 0.00001144 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183236593C>G , CM000663.2:g.183236593C>G GRCh38
NC_000001.10:g.183205728C>G , CM000663.1:g.183205728C>G GRCh37
NC_000001.9:g.181472351C>G NCBI36
NG_007079.2:g.55330C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.2590C>G MANE Select ENSP00000264144.4:p.Gln864Glu
ENST00000264144.4:c.2590C>G ENSP00000264144.4:p.Gln864Glu
ENST00000493293.5:c.2590C>G ENSP00000432063.1:p.Gln864Glu
NM_005562.2:c.2590C>G NP_005553.2:p.Gln864Glu
NM_018891.2:c.2590C>G NP_061486.2:p.Gln864Glu
NM_005562.3:c.2590C>G MANE Select NP_005553.2:p.Gln864Glu
NM_018891.3:c.2590C>G NP_061486.2:p.Gln864Glu
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