Canonical Allele Identifier: CA1553927673
Gene: MARVELD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69433215T= , CM000667.2:g.69433215T= GRCh38
NC_000005.9:g.68729042T= , CM000667.1:g.68729042T= GRCh37
NC_000005.8:g.68764798T= NCBI36
NG_017201.1:g.23104T=
NG_017201.2:g.23104T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.1503+122T= MANE Select ENSP00000323264.5:n.1503+122T=
ENST00000413223.3:c.1155+122T= ENSP00000398922.2:n.1155+122T=
ENST00000436532.7:c.1155+122T= ENSP00000414776.2:n.1155+122T=
ENST00000645446.1:c.1503+122T= ENSP00000494616.1:n.1503+122T=
ENST00000647531.1:c.1467+122T= ENSP00000493858.1:n.1467+122T=
ENST00000325631.9:c.1503+122T= ENSP00000323264.5:n.1503+122T=
ENST00000413223.2:c.1155+122T= ENSP00000398922.2:n.1155+122T=
ENST00000436532.6:c.1155+122T= ENSP00000414776.2:n.1155+122T=
ENST00000454295.6:c.1467+122T= ENSP00000396244.2:n.1467+122T=
ENST00000512803.5:c.1503+122T= ENSP00000423490.1:n.1503+122T=
NM_001038603.2:c.1503+122T= NP_001033692.2:n.1503+122T=
NM_001244734.1:c.1467+122T= NP_001231663.1:n.1467+122T=
XM_005248445.3:c.1503+122T= XP_005248502.1:n.1503+122T=
XM_005248446.3:c.1503+122T= XP_005248503.1:n.1503+122T=
XM_005248447.3:c.1467+122T= XP_005248504.1:n.1467+122T=
XM_005248445.4:c.1503+122T= XP_005248502.1:n.1503+122T=
XM_005248446.4:c.1503+122T= XP_005248503.1:n.1503+122T=
XM_005248447.4:c.1467+122T= XP_005248504.1:n.1467+122T=
NM_001038603.3:c.1503+122T= MANE Select NP_001033692.2:n.1503+122T=
NM_001244734.2:c.1467+122T= NP_001231663.1:n.1467+122T=