Canonical Allele Identifier: CA7563495

Gene: LYSMD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51724953C>T , CM000677.2:g.51724953C>T	GRCh38
NC_000015.9:g.52017150C>T , CM000677.1:g.52017150C>T	GRCh37
NC_000015.8:g.49804442C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_153374.3:c.442G>A MANE Select	NP_699205.1:p.Glu148Lys
ENST00000267838.7:c.442G>A MANE Select	ENSP00000267838.3:p.Glu148Lys
NM_001143917.1:c.169G>A	NP_001137389.1:p.Glu57Lys
NM_001143917.2:c.169G>A	NP_001137389.1:p.Glu57Lys
NM_001363969.1:c.169G>A	NP_001350898.1:p.Glu57Lys
NM_001363969.2:c.169G>A	NP_001350898.1:p.Glu57Lys
NM_153374.2:c.442G>A	NP_699205.1:p.Glu148Lys
ENST00000267838.6:c.442G>A	ENSP00000267838.3:p.Glu148Lys
ENST00000454181.6:c.169G>A	ENSP00000410424.2:p.Glu57Lys
ENST00000558126.1:c.121G>A	ENSP00000452715.1:p.Glu41Lys
ENST00000560491.2:c.169G>A	ENSP00000453933.1:p.Glu57Lys