Canonical Allele Identifier: CA2578329378

Gene: MARVELD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419969dup , CM000667.2:g.69419969dup	GRCh38
NC_000005.9:g.68715796dup , CM000667.1:g.68715796dup	GRCh37
NC_000005.8:g.68751552dup	NCBI36
NG_017201.1:g.9858dup
NG_017201.2:g.9858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.584dup MANE Select	ENSP00000323264.5:p.Leu196ThrfsTer25
ENST00000413223.3:c.584dup	ENSP00000398922.2:p.Leu196ThrfsTer25
ENST00000436532.7:c.584dup	ENSP00000414776.2:p.Leu196ThrfsTer25
ENST00000645446.1:c.584dup	ENSP00000494616.1:p.Leu196ThrfsTer25
ENST00000647531.1:c.584dup	ENSP00000493858.1:p.Leu196ThrfsTer25
ENST00000325631.9:c.584dup	ENSP00000323264.5:p.Leu196ThrfsTer25
ENST00000413223.2:c.584dup	ENSP00000398922.2:p.Leu196ThrfsTer25
ENST00000436532.6:c.584dup	ENSP00000414776.2:p.Leu196ThrfsTer25
ENST00000454295.6:c.584dup	ENSP00000396244.2:p.Leu196ThrfsTer25
ENST00000512803.5:c.584dup	ENSP00000423490.1:p.Leu196ThrfsTer25
NM_001038603.2:c.584dup	NP_001033692.2:p.Leu196ThrfsTer25
NM_001244734.1:c.584dup	NP_001231663.1:p.Leu196ThrfsTer25
XM_005248445.3:c.584dup	XP_005248502.1:p.Leu196ThrfsTer25
XM_005248446.3:c.584dup	XP_005248503.1:p.Leu196ThrfsTer25
XM_005248447.3:c.584dup	XP_005248504.1:p.Leu196ThrfsTer25
XM_005248445.4:c.584dup	XP_005248502.1:p.Leu196ThrfsTer25
XM_005248446.4:c.584dup	XP_005248503.1:p.Leu196ThrfsTer25
XM_005248447.4:c.584dup	XP_005248504.1:p.Leu196ThrfsTer25
NM_001038603.3:c.584dup MANE Select	NP_001033692.2:p.Leu196ThrfsTer25
NM_001244734.2:c.584dup	NP_001231663.1:p.Leu196ThrfsTer25