Canonical Allele Identifier: CA16040677
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370380
ClinVar RCV Id: RCV000410149
dbSNP Id: rs1057516444

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183220880_183220881insAA , CM000663.2:g.183220880_183220881insAA GRCh38
NC_000001.10:g.183190015_183190016insAA , CM000663.1:g.183190015_183190016insAA GRCh37
NC_000001.9:g.181456638_181456639insAA NCBI36
NG_007079.2:g.39617_39618insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.559_560insAA MANE Select ENSP00000264144.4:p.Cys187Ter
ENST00000264144.4:c.559_560insAA ENSP00000264144.4:p.Cys187Ter
ENST00000493293.5:c.559_560insAA ENSP00000432063.1:p.Cys187Ter
NM_005562.2:c.559_560insAA NP_005553.2:p.Cys187Ter
NM_018891.2:c.559_560insAA NP_061486.2:p.Cys187Ter
XM_017001273.2:c.559_560insAA XP_016856762.1:p.Cys187Ter
NM_005562.3:c.559_560insAA MANE Select NP_005553.2:p.Cys187Ter
NM_018891.3:c.559_560insAA NP_061486.2:p.Cys187Ter