Canonical Allele Identifier: CA363685391

Gene: LEMD2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33772704G>A , CM000668.2:g.33772704G>A	GRCh38
NC_000006.11:g.33740481G>A , CM000668.1:g.33740481G>A	GRCh37
NC_000006.10:g.33848459G>A	NCBI36
NG_053042.1:g.26571C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181336.4:c.1436C>T MANE Select	NP_851853.1:p.Ser479Phe
ENST00000293760.10:c.1436C>T MANE Select	ENSP00000293760.5:p.Ser479Phe
NM_001143944.1:c.530C>T	NP_001137416.1:p.Ser177Phe
NM_001348709.1:c.530C>T	NP_001335638.1:p.Ser177Phe
NM_001348709.2:c.530C>T	NP_001335638.1:p.Ser177Phe
NM_001348710.1:c.1037C>T	NP_001335639.1:p.Ser346Phe
NM_001348710.2:c.1037C>T	NP_001335639.1:p.Ser346Phe
NM_181336.3:c.1436C>T	NP_851853.1:p.Ser479Phe
ENST00000293760.9:c.1436C>T	ENSP00000293760.5:p.Ser479Phe
ENST00000421671.6:c.*697C>T	ENSP00000398733.2:n.*697C>T
ENST00000506578.5:c.182C>T	ENSP00000423715.1:p.Ser61Phe
ENST00000508327.5:c.530C>T	ENSP00000421704.1:p.Ser177Phe
ENST00000511171.5:n.3388C>T
ENST00000614475.4:c.1436C>T	ENSP00000478539.1:p.Ser479Phe