Canonical Allele Identifier: CA343662559
Gene: LAMC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.183212319A>C (hg19) chr1:g.183243184A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243184A>C , CM000663.2:g.183243184A>C GRCh38
NC_000001.10:g.183212319A>C , CM000663.1:g.183212319A>C GRCh37
NC_000001.9:g.181478942A>C NCBI36
NG_007079.2:g.61921A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3366A>C MANE Select ENSP00000264144.4:p.Leu1122Phe
ENST00000264144.4:c.3366A>C ENSP00000264144.4:p.Leu1122Phe
NM_005562.2:c.3366A>C NP_005553.2:p.Leu1122Phe
NM_005562.3:c.3366A>C MANE Select NP_005553.2:p.Leu1122Phe
Search 100 bp 5'
Search 100 bp 3'