Canonical Allele Identifier: CA343662565
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs587281
gnomAD v2: 1-183212320-C-G
gnomAD v3: 1-183243185-C-G
gnomAD v4: 1-183243185-C-G
MyVariant Identifiers: chr1:g.183212320C>G (hg19) chr1:g.183243185C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243185C>G , CM000663.2:g.183243185C>G GRCh38
NC_000001.10:g.183212320C>G , CM000663.1:g.183212320C>G GRCh37
NC_000001.9:g.181478943C>G NCBI36
NG_007079.2:g.61922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3367C>G MANE Select ENSP00000264144.4:p.Leu1123Val
ENST00000264144.4:c.3367C>G ENSP00000264144.4:p.Leu1123Val
NM_005562.2:c.3367C>G NP_005553.2:p.Leu1123Val
NM_005562.3:c.3367C>G MANE Select NP_005553.2:p.Leu1123Val
Search 100 bp 5'
Search 100 bp 3'