Canonical Allele Identifier: CA527259706

Gene: LAMC2

Linked Data

• dbSNP Id: rs1558084299
• gnomAD v2: 1-183176971-T-TTTTG
• gnomAD v4: 1-183207836-T-TTTTG
• MyVariant Identifiers: chr1:g.183176971_183176972insTTTG (hg19) ; chr1:g.183207836_183207837insTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183207839_183207840insGTTT , CM000663.2:g.183207839_183207840insGTTT	GRCh38
NC_000001.10:g.183176974_183176975insGTTT , CM000663.1:g.183176974_183176975insGTTT	GRCh37
NC_000001.9:g.181443597_181443598insGTTT	NCBI36
NG_007079.2:g.26576_26577insGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.80-42_80-41insGTTT MANE Select	ENSP00000264144.4:n.80-42_80-41insGTTT
ENST00000264144.4:c.80-42_80-41insGTTT	ENSP00000264144.4:n.80-42_80-41insGTTT
ENST00000493293.5:c.80-42_80-41insGTTT	ENSP00000432063.1:n.80-42_80-41insGTTT
NM_005562.2:c.80-42_80-41insGTTT	NP_005553.2:n.80-42_80-41insGTTT
NM_018891.2:c.80-42_80-41insGTTT	NP_061486.2:n.80-42_80-41insGTTT
XM_017001273.2:c.80-42_80-41insGTTT	XP_016856762.1:n.80-42_80-41insGTTT
NM_005562.3:c.80-42_80-41insGTTT MANE Select	NP_005553.2:n.80-42_80-41insGTTT
NM_018891.3:c.80-42_80-41insGTTT	NP_061486.2:n.80-42_80-41insGTTT