Canonical Allele Identifier: CA10581242

Gene: LEMD2

Linked Data

• ClinVar Variation Id: 235192
• ClinVar RCV Id: RCV000224057
• dbSNP Id: rs878852983
• MyVariant Identifiers: chr6:g.33756856A>C (hg19) ; chr6:g.33789079A>C (hg38)
• PubMed: PMID:23863954 ; PMID:26788539

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33789079A>C , CM000668.2:g.33789079A>C	GRCh38
NC_000006.11:g.33756856A>C , CM000668.1:g.33756856A>C	GRCh37
NC_000006.10:g.33864834A>C	NCBI36
NG_053042.1:g.10196T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293760.10:c.38T>G MANE Select	ENSP00000293760.5:p.Leu13Arg
ENST00000293760.9:c.38T>G	ENSP00000293760.5:p.Leu13Arg
ENST00000421671.6:c.38T>G	ENSP00000398733.2:p.Leu13Arg
ENST00000614475.4:c.38T>G	ENSP00000478539.1:p.Leu13Arg
NM_181336.3:c.38T>G	NP_851853.1:p.Leu13Arg
XR_926111.1:n.85T>G
NM_001348709.1:c.-475T>G	NP_001335638.1:n.-475T>G
NM_001348710.1:c.38T>G	NP_001335639.1:p.Leu13Arg
XM_017010437.1:c.227T>G	XP_016865926.1:p.Leu76Arg
NM_181336.4:c.38T>G MANE Select	NP_851853.1:p.Leu13Arg
NM_001348709.2:c.-475T>G	NP_001335638.1:n.-475T>G
NM_001348710.2:c.38T>G	NP_001335639.1:p.Leu13Arg