Canonical Allele Identifier: CA3294060
Gene: MARVELD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1341612
dbSNP Id: rs151176949
gnomAD v2: 5-68715703-G-A
gnomAD v3: 5-69419876-G-A
gnomAD v4: 5-69419876-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419876G>A , CM000667.2:g.69419876G>A GRCh38
NC_000005.9:g.68715703G>A , CM000667.1:g.68715703G>A GRCh37
NC_000005.8:g.68751459G>A NCBI36
NG_017201.1:g.9765G>A
NG_017201.2:g.9765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.491G>A MANE Select ENSP00000323264.5:p.Arg164Gln
ENST00000413223.3:c.491G>A ENSP00000398922.2:p.Arg164Gln
ENST00000436532.7:c.491G>A ENSP00000414776.2:p.Arg164Gln
ENST00000645446.1:c.491G>A ENSP00000494616.1:p.Arg164Gln
ENST00000647531.1:c.491G>A ENSP00000493858.1:p.Arg164Gln
ENST00000325631.9:c.491G>A ENSP00000323264.5:p.Arg164Gln
ENST00000413223.2:c.491G>A ENSP00000398922.2:p.Arg164Gln
ENST00000436532.6:c.491G>A ENSP00000414776.2:p.Arg164Gln
ENST00000454295.6:c.491G>A ENSP00000396244.2:p.Arg164Gln
ENST00000512803.5:c.491G>A ENSP00000423490.1:p.Arg164Gln
NM_001038603.2:c.491G>A NP_001033692.2:p.Arg164Gln
NM_001244734.1:c.491G>A NP_001231663.1:p.Arg164Gln
XM_005248445.3:c.491G>A XP_005248502.1:p.Arg164Gln
XM_005248446.3:c.491G>A XP_005248503.1:p.Arg164Gln
XM_005248447.3:c.491G>A XP_005248504.1:p.Arg164Gln
XM_005248445.4:c.491G>A XP_005248502.1:p.Arg164Gln
XM_005248446.4:c.491G>A XP_005248503.1:p.Arg164Gln
XM_005248447.4:c.491G>A XP_005248504.1:p.Arg164Gln
NM_001038603.3:c.491G>A MANE Select NP_001033692.2:p.Arg164Gln
NM_001244734.2:c.491G>A NP_001231663.1:p.Arg164Gln