Canonical Allele Identifier: CA1139658866
Gene: MARVELD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69441662T>G , CM000667.2:g.69441662T>G GRCh38
NC_000005.9:g.68737489T>G , CM000667.1:g.68737489T>G GRCh37
NC_000005.8:g.68773245T>G NCBI36
NG_017201.1:g.31551T>G
NG_017201.2:g.31551T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.*8T>G MANE Select ENSP00000323264.5:n.*8T>G
ENST00000413223.3:c.*8T>G ENSP00000398922.2:n.*8T>G
ENST00000436532.7:c.1337T>G ENSP00000414776.2:n.1337T>G
ENST00000645446.1:c.*8T>G ENSP00000494616.1:n.*8T>G
ENST00000647531.1:c.*8T>G ENSP00000493858.1:n.*8T>G
ENST00000325631.9:c.*8T>G ENSP00000323264.5:n.*8T>G
ENST00000413223.2:c.*8T>G ENSP00000398922.2:n.*8T>G
ENST00000436532.6:c.*8T>G ENSP00000414776.2:n.*8T>G
ENST00000454295.6:c.*8T>G ENSP00000396244.2:n.*8T>G
NM_001038603.2:c.*8T>G NP_001033692.2:n.*8T>G
NM_001244734.1:c.*8T>G NP_001231663.1:n.*8T>G
XM_005248445.3:c.*8T>G XP_005248502.1:n.*8T>G
XM_005248446.3:c.*8T>G XP_005248503.1:n.*8T>G
XM_005248447.3:c.*8T>G XP_005248504.1:n.*8T>G
XM_005248445.4:c.*8T>G XP_005248502.1:n.*8T>G
XM_005248446.4:c.*8T>G XP_005248503.1:n.*8T>G
XM_005248447.4:c.*8T>G XP_005248504.1:n.*8T>G
NM_001038603.3:c.*8T>G MANE Select NP_001033692.2:n.*8T>G
NM_001244734.2:c.*8T>G NP_001231663.1:n.*8T>G