Canonical Allele Identifier: CA1620159093
Gene: LEMD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33772248C>G , CM000668.2:g.33772248C>G GRCh38
NC_000006.11:g.33740025C>G , CM000668.1:g.33740025C>G GRCh37
NC_000006.10:g.33848003C>G NCBI36
NG_053042.1:g.27027G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293760.10:c.*380G>C MANE Select ENSP00000293760.5:n.*380G>C
ENST00000293760.9:c.*380G>C ENSP00000293760.5:n.*380G>C
ENST00000421671.6:c.*1153G>C ENSP00000398733.2:n.*1153G>C
ENST00000506578.5:c.638G>C ENSP00000423715.1:n.638G>C
ENST00000511171.5:n.3844G>C
ENST00000614475.4:c.*380G>C ENSP00000478539.1:n.*380G>C
NM_001143944.1:c.*380G>C NP_001137416.1:n.*380G>C
NM_181336.3:c.*380G>C NP_851853.1:n.*380G>C
NM_001348709.1:c.*380G>C NP_001335638.1:n.*380G>C
NM_001348710.1:c.*380G>C NP_001335639.1:n.*380G>C
NM_181336.4:c.*380G>C MANE Select NP_851853.1:n.*380G>C
NM_001348709.2:c.*380G>C NP_001335638.1:n.*380G>C
NM_001348710.2:c.*380G>C NP_001335639.1:n.*380G>C