Canonical Allele Identifier: CA1620159092

Gene: LEMD2

Genomic Alleles

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

Transcript Alleles

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