Canonical Allele Identifier: CA1282343

Gene: LAMC2

Linked Data

• ClinVar Variation Id: 290568
• ClinVar RCV Id: RCV000270360 ; RCV000950067 ; RCV001100402 ; RCV003153552 ; RCV003967800
• dbSNP Id: rs142335339
• ExAC: 1:183187613 C / T
• gnomAD v2: 1-183187613-C-T
• gnomAD v3: 1-183218478-C-T
• gnomAD v4: 1-183218478-C-T
• COSMIC: COSM1337002
• MyVariant Identifiers: chr1:g.183187613C>T (hg19) ; chr1:g.183218478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183218478C>T , CM000663.2:g.183218478C>T	GRCh38
NC_000001.10:g.183187613C>T , CM000663.1:g.183187613C>T	GRCh37
NC_000001.9:g.181454236C>T	NCBI36
NG_007079.2:g.37215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.493C>T MANE Select	ENSP00000264144.4:p.Arg165Cys
ENST00000264144.4:c.493C>T	ENSP00000264144.4:p.Arg165Cys
ENST00000493293.5:c.493C>T	ENSP00000432063.1:p.Arg165Cys
NM_005562.2:c.493C>T	NP_005553.2:p.Arg165Cys
NM_018891.2:c.493C>T	NP_061486.2:p.Arg165Cys
XM_017001273.2:c.493C>T	XP_016856762.1:p.Arg165Cys
NM_005562.3:c.493C>T MANE Select	NP_005553.2:p.Arg165Cys
NM_018891.3:c.493C>T	NP_061486.2:p.Arg165Cys