Canonical Allele Identifier: CA658821421

Gene: LAMC2

Linked Data

• ClinVar Variation Id: 558714
• ClinVar RCV Id: RCV000675023
• dbSNP Id: rs1553264644
• MyVariant Identifiers: chr1:g.183207981dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183207981dup , CM000663.2:g.183207981dup	GRCh38
NC_000001.10:g.183177116dup , CM000663.1:g.183177116dup	GRCh37
NC_000001.9:g.181443739dup	NCBI36
NG_007079.2:g.26718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264144.5:c.180dup MANE Select	ENSP00000264144.4:p.Asp61Ter
ENST00000264144.4:c.180dup	ENSP00000264144.4:p.Asp61Ter
ENST00000493293.5:c.180dup	ENSP00000432063.1:p.Asp61Ter
NM_005562.2:c.180dup	NP_005553.2:p.Asp61Ter
NM_018891.2:c.180dup	NP_061486.2:p.Asp61Ter
XM_017001273.2:c.180dup	XP_016856762.1:p.Asp61Ter
NM_005562.3:c.180dup MANE Select	NP_005553.2:p.Asp61Ter
NM_018891.3:c.180dup	NP_061486.2:p.Asp61Ter