Canonical Allele Identifier: CA343662554
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs1660173338
gnomAD v3: 1-183243183-T-C
gnomAD v4: 1-183243183-T-C
MyVariant Identifiers: chr1:g.183212318T>C (hg19) chr1:g.183243183T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3365T>C MANE Select ENSP00000264144.4:p.Leu1122Ser
ENST00000264144.4:c.3365T>C ENSP00000264144.4:p.Leu1122Ser
NM_005562.2:c.3365T>C NP_005553.2:p.Leu1122Ser
NM_005562.3:c.3365T>C MANE Select NP_005553.2:p.Leu1122Ser
Search 100 bp 5'
Search 100 bp 3'