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ClinGen Allele Registry
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Canonical Allele Identifier:
CA343663124
Community Standard Title: NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)
Gene: LAMC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183243272C>T , CM000663.2:g.183243272C>T
GRCh38
NC_000001.10:g.183212407C>T , CM000663.1:g.183212407C>T
GRCh37
NC_000001.9:g.181479030C>T
NCBI36
NG_007079.2:g.62009C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_005562.3:c.3454C>T
MANE Select
NP_005553.2:p.Gln1152Ter
ENST00000264144.5:c.3454C>T
MANE Select
ENSP00000264144.4:p.Gln1152Ter
NM_005562.2:c.3454C>T
NP_005553.2:p.Gln1152Ter
ENST00000264144.4:c.3454C>T
ENSP00000264144.4:p.Gln1152Ter
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