Canonical Allele Identifier: CA343675069
Gene: LAMC2 HGNC NCBI

Linked Data

gnomAD v4: 1-183218401-G-A
MyVariant Identifiers: chr1:g.183187536G>A (hg19) chr1:g.183218401G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183218401G>A , CM000663.2:g.183218401G>A GRCh38
NC_000001.10:g.183187536G>A , CM000663.1:g.183187536G>A GRCh37
NC_000001.9:g.181454159G>A NCBI36
NG_007079.2:g.37138G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.416G>A MANE Select ENSP00000264144.4:p.Cys139Tyr
ENST00000264144.4:c.416G>A ENSP00000264144.4:p.Cys139Tyr
ENST00000493293.5:c.416G>A ENSP00000432063.1:p.Cys139Tyr
NM_005562.2:c.416G>A NP_005553.2:p.Cys139Tyr
NM_018891.2:c.416G>A NP_061486.2:p.Cys139Tyr
XM_017001273.2:c.416G>A XP_016856762.1:p.Cys139Tyr
NM_005562.3:c.416G>A MANE Select NP_005553.2:p.Cys139Tyr
NM_018891.3:c.416G>A NP_061486.2:p.Cys139Tyr
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