Canonical Allele Identifier: CA359924854
Gene: MARVELD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 620515
ClinVar RCV Id: RCV000760899
dbSNP Id: rs1561291313

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69420251G>A , CM000667.2:g.69420251G>A GRCh38
NC_000005.9:g.68716078G>A , CM000667.1:g.68716078G>A GRCh37
NC_000005.8:g.68751834G>A NCBI36
NG_017201.1:g.10140G>A
NG_017201.2:g.10140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.866G>A MANE Select ENSP00000323264.5:p.Trp289Ter
ENST00000413223.3:c.725+141G>A ENSP00000398922.2:n.725+141G>A
ENST00000436532.7:c.725+141G>A ENSP00000414776.2:n.725+141G>A
ENST00000645446.1:c.866G>A ENSP00000494616.1:p.Trp289Ter
ENST00000647531.1:c.866G>A ENSP00000493858.1:p.Trp289Ter
ENST00000325631.9:c.866G>A ENSP00000323264.5:p.Trp289Ter
ENST00000413223.2:c.725+141G>A ENSP00000398922.2:n.725+141G>A
ENST00000436532.6:c.725+141G>A ENSP00000414776.2:n.725+141G>A
ENST00000454295.6:c.866G>A ENSP00000396244.2:p.Trp289Ter
ENST00000512803.5:c.866G>A ENSP00000423490.1:p.Trp289Ter
NM_001038603.2:c.866G>A NP_001033692.2:p.Trp289Ter
NM_001244734.1:c.866G>A NP_001231663.1:p.Trp289Ter
XM_005248445.3:c.866G>A XP_005248502.1:p.Trp289Ter
XM_005248446.3:c.866G>A XP_005248503.1:p.Trp289Ter
XM_005248447.3:c.866G>A XP_005248504.1:p.Trp289Ter
XM_005248445.4:c.866G>A XP_005248502.1:p.Trp289Ter
XM_005248446.4:c.866G>A XP_005248503.1:p.Trp289Ter
XM_005248447.4:c.866G>A XP_005248504.1:p.Trp289Ter
NM_001038603.3:c.866G>A MANE Select NP_001033692.2:p.Trp289Ter
NM_001244734.2:c.866G>A NP_001231663.1:p.Trp289Ter