Canonical Allele Identifier: CA3294062
Gene: MARVELD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 354083
ClinVar RCV Id: RCV000308641
dbSNP Id: rs772742922
gnomAD v2: 5-68715709-C-T
gnomAD v3: 5-69419882-C-T
gnomAD v4: 5-69419882-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419882C>T , CM000667.2:g.69419882C>T GRCh38
NC_000005.9:g.68715709C>T , CM000667.1:g.68715709C>T GRCh37
NC_000005.8:g.68751465C>T NCBI36
NG_017201.1:g.9771C>T
NG_017201.2:g.9771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.497C>T MANE Select ENSP00000323264.5:p.Thr166Ile
ENST00000413223.3:c.497C>T ENSP00000398922.2:p.Thr166Ile
ENST00000436532.7:c.497C>T ENSP00000414776.2:p.Thr166Ile
ENST00000645446.1:c.497C>T ENSP00000494616.1:p.Thr166Ile
ENST00000647531.1:c.497C>T ENSP00000493858.1:p.Thr166Ile
ENST00000325631.9:c.497C>T ENSP00000323264.5:p.Thr166Ile
ENST00000413223.2:c.497C>T ENSP00000398922.2:p.Thr166Ile
ENST00000436532.6:c.497C>T ENSP00000414776.2:p.Thr166Ile
ENST00000454295.6:c.497C>T ENSP00000396244.2:p.Thr166Ile
ENST00000512803.5:c.497C>T ENSP00000423490.1:p.Thr166Ile
NM_001038603.2:c.497C>T NP_001033692.2:p.Thr166Ile
NM_001244734.1:c.497C>T NP_001231663.1:p.Thr166Ile
XM_005248445.3:c.497C>T XP_005248502.1:p.Thr166Ile
XM_005248446.3:c.497C>T XP_005248503.1:p.Thr166Ile
XM_005248447.3:c.497C>T XP_005248504.1:p.Thr166Ile
XM_005248445.4:c.497C>T XP_005248502.1:p.Thr166Ile
XM_005248446.4:c.497C>T XP_005248503.1:p.Thr166Ile
XM_005248447.4:c.497C>T XP_005248504.1:p.Thr166Ile
NM_001038603.3:c.497C>T MANE Select NP_001033692.2:p.Thr166Ile
NM_001244734.2:c.497C>T NP_001231663.1:p.Thr166Ile