Canonical Allele Identifier: CA422113119
Gene: LAMC2 HGNC NCBI

Linked Data

dbSNP Id: rs1253740547
gnomAD v2: 1-183212325-G-A
gnomAD v3: 1-183243190-G-A
gnomAD v4: 1-183243190-G-A
MyVariant Identifiers: chr1:g.183212325G>A (hg19) chr1:g.183243190G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243190G>A , CM000663.2:g.183243190G>A GRCh38
NC_000001.10:g.183212325G>A , CM000663.1:g.183212325G>A GRCh37
NC_000001.9:g.181478948G>A NCBI36
NG_007079.2:g.61927G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3372G>A MANE Select ENSP00000264144.4:p.Glu1124=
ENST00000264144.4:c.3372G>A ENSP00000264144.4:p.Glu1124=
NM_005562.2:c.3372G>A NP_005553.2:p.Glu1124=
NM_005562.3:c.3372G>A MANE Select NP_005553.2:p.Glu1124=
Search 100 bp 5'
Search 100 bp 3'