Canonical Allele Identifier: CA343662547
Gene: LAMC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.183212317T>A (hg19) chr1:g.183243182T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243182T>A , CM000663.2:g.183243182T>A GRCh38
NC_000001.10:g.183212317T>A , CM000663.1:g.183212317T>A GRCh37
NC_000001.9:g.181478940T>A NCBI36
NG_007079.2:g.61919T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3364T>A MANE Select ENSP00000264144.4:p.Leu1122Ile
ENST00000264144.4:c.3364T>A ENSP00000264144.4:p.Leu1122Ile
NM_005562.2:c.3364T>A NP_005553.2:p.Leu1122Ile
NM_005562.3:c.3364T>A MANE Select NP_005553.2:p.Leu1122Ile
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