Canonical Allele Identifier: CA16040679
Gene: LAMC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370082
ClinVar RCV Id: RCV000409946
dbSNP Id: rs1057516218
MyVariant Identifiers: chr1:g.183192383_183192384del (hg19) chr1:g.183223248_183223249del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183223248_183223249del , CM000663.2:g.183223248_183223249del GRCh38
NC_000001.10:g.183192383_183192384del , CM000663.1:g.183192383_183192384del GRCh37
NC_000001.9:g.181459006_181459007del NCBI36
NG_007079.2:g.41985_41986del

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.877_878del MANE Select ENSP00000264144.4:p.Gly293SerfsTer28
ENST00000264144.4:c.877_878del ENSP00000264144.4:p.Gly293SerfsTer28
ENST00000493293.5:c.877_878del ENSP00000432063.1:p.Gly293SerfsTer28
NM_005562.2:c.877_878del NP_005553.2:p.Gly293SerfsTer28
NM_018891.2:c.877_878del NP_061486.2:p.Gly293SerfsTer28
XM_017001273.2:c.877_878del XP_016856762.1:p.Gly293SerfsTer28
NM_005562.3:c.877_878del MANE Select NP_005553.2:p.Gly293SerfsTer28
NM_018891.3:c.877_878del NP_061486.2:p.Gly293SerfsTer28
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