Canonical Allele Identifier: CA343662557
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1180731
ClinVar RCV Id: RCV001814460 RCV002276522
dbSNP Id: rs1660173338
gnomAD v4: 1-183243183-T-G
MyVariant Identifiers: chr1:g.183212318T>G (hg19) chr1:g.183243183T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243183T>G , CM000663.2:g.183243183T>G GRCh38
NC_000001.10:g.183212318T>G , CM000663.1:g.183212318T>G GRCh37
NC_000001.9:g.181478941T>G NCBI36
NG_007079.2:g.61920T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3365T>G MANE Select ENSP00000264144.4:p.Leu1122Ter
ENST00000264144.4:c.3365T>G ENSP00000264144.4:p.Leu1122Ter
NM_005562.2:c.3365T>G NP_005553.2:p.Leu1122Ter
NM_005562.3:c.3365T>G MANE Select NP_005553.2:p.Leu1122Ter
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