Canonical Allele Identifier: CA1282212

Gene: LAMC2

Linked Data

• dbSNP Id: rs774911353
• ExAC: 1:183176977 T / TTC
• gnomAD v2: 1-183176977-T-TTC
• gnomAD v3: 1-183207842-T-TTC
• gnomAD v4: 1-183207842-T-TTC
• MyVariant Identifiers: chr1:g.183176977_183176978insTC (hg19) ; chr1:g.183207842_183207843insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183207843_183207844insCT , CM000663.2:g.183207843_183207844insCT	GRCh38
NC_000001.10:g.183176978_183176979insCT , CM000663.1:g.183176978_183176979insCT	GRCh37
NC_000001.9:g.181443601_181443602insCT	NCBI36
NG_007079.2:g.26580_26581insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.80-38_80-37insCT MANE Select	ENSP00000264144.4:n.80-38_80-37insCT
ENST00000264144.4:c.80-38_80-37insCT	ENSP00000264144.4:n.80-38_80-37insCT
ENST00000493293.5:c.80-38_80-37insCT	ENSP00000432063.1:n.80-38_80-37insCT
NM_005562.2:c.80-38_80-37insCT	NP_005553.2:n.80-38_80-37insCT
NM_018891.2:c.80-38_80-37insCT	NP_061486.2:n.80-38_80-37insCT
XM_017001273.2:c.80-38_80-37insCT	XP_016856762.1:n.80-38_80-37insCT
NM_005562.3:c.80-38_80-37insCT MANE Select	NP_005553.2:n.80-38_80-37insCT
NM_018891.3:c.80-38_80-37insCT	NP_061486.2:n.80-38_80-37insCT