Canonical Allele Identifier: CA3294229
Gene: MARVELD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 228359
dbSNP Id: rs762352115
gnomAD v2: 5-68728503-G-A
gnomAD v3: 5-69432676-G-A
gnomAD v4: 5-69432676-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69432676G>A , CM000667.2:g.69432676G>A GRCh38
NC_000005.9:g.68728503G>A , CM000667.1:g.68728503G>A GRCh37
NC_000005.8:g.68764259G>A NCBI36
NG_017201.1:g.22565G>A
NG_017201.2:g.22565G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325631.10:c.1331+1G>A MANE Select ENSP00000323264.5:n.1331+1G>A
ENST00000413223.3:c.983+1G>A ENSP00000398922.2:n.983+1G>A
ENST00000436532.7:c.983+1G>A ENSP00000414776.2:n.983+1G>A
ENST00000645446.1:c.1331+1G>A ENSP00000494616.1:n.1331+1G>A
ENST00000647531.1:c.1295+1G>A ENSP00000493858.1:n.1295+1G>A
ENST00000325631.9:c.1331+1G>A ENSP00000323264.5:n.1331+1G>A
ENST00000413223.2:c.983+1G>A ENSP00000398922.2:n.983+1G>A
ENST00000436532.6:c.983+1G>A ENSP00000414776.2:n.983+1G>A
ENST00000454295.6:c.1295+1G>A ENSP00000396244.2:n.1295+1G>A
ENST00000512803.5:c.1331+1G>A ENSP00000423490.1:n.1331+1G>A
NM_001038603.2:c.1331+1G>A NP_001033692.2:n.1331+1G>A
NM_001244734.1:c.1295+1G>A NP_001231663.1:n.1295+1G>A
XM_005248445.3:c.1331+1G>A XP_005248502.1:n.1331+1G>A
XM_005248446.3:c.1331+1G>A XP_005248503.1:n.1331+1G>A
XM_005248447.3:c.1295+1G>A XP_005248504.1:n.1295+1G>A
XM_005248445.4:c.1331+1G>A XP_005248502.1:n.1331+1G>A
XM_005248446.4:c.1331+1G>A XP_005248503.1:n.1331+1G>A
XM_005248447.4:c.1295+1G>A XP_005248504.1:n.1295+1G>A
NM_001038603.3:c.1331+1G>A MANE Select NP_001033692.2:n.1331+1G>A
NM_001244734.2:c.1295+1G>A NP_001231663.1:n.1295+1G>A