Canonical Allele Identifier: CA3293996
Gene: MARVELD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075903
ClinVar RCV Id: RCV004018221
dbSNP Id: rs531073647
gnomAD v2: 5-68715400-C-A
gnomAD v4: 5-69419573-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419573C>A , CM000667.2:g.69419573C>A GRCh38
NC_000005.9:g.68715400C>A , CM000667.1:g.68715400C>A GRCh37
NC_000005.8:g.68751156C>A NCBI36
NG_017201.1:g.9462C>A
NG_017201.2:g.9462C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.188C>A MANE Select ENSP00000323264.5:p.Ser63Ter
ENST00000413223.3:c.188C>A ENSP00000398922.2:p.Ser63Ter
ENST00000436532.7:c.188C>A ENSP00000414776.2:p.Ser63Ter
ENST00000645446.1:c.188C>A ENSP00000494616.1:p.Ser63Ter
ENST00000647531.1:c.188C>A ENSP00000493858.1:p.Ser63Ter
ENST00000325631.9:c.188C>A ENSP00000323264.5:p.Ser63Ter
ENST00000413223.2:c.188C>A ENSP00000398922.2:p.Ser63Ter
ENST00000436532.6:c.188C>A ENSP00000414776.2:p.Ser63Ter
ENST00000454295.6:c.188C>A ENSP00000396244.2:p.Ser63Ter
ENST00000512803.5:c.188C>A ENSP00000423490.1:p.Ser63Ter
ENST00000515844.1:c.188C>A ENSP00000421902.1:p.Ser63Ter
NM_001038603.2:c.188C>A NP_001033692.2:p.Ser63Ter
NM_001244734.1:c.188C>A NP_001231663.1:p.Ser63Ter
XM_005248445.3:c.188C>A XP_005248502.1:p.Ser63Ter
XM_005248446.3:c.188C>A XP_005248503.1:p.Ser63Ter
XM_005248447.3:c.188C>A XP_005248504.1:p.Ser63Ter
XM_005248445.4:c.188C>A XP_005248502.1:p.Ser63Ter
XM_005248446.4:c.188C>A XP_005248503.1:p.Ser63Ter
XM_005248447.4:c.188C>A XP_005248504.1:p.Ser63Ter
NM_001038603.3:c.188C>A MANE Select NP_001033692.2:p.Ser63Ter
NM_001244734.2:c.188C>A NP_001231663.1:p.Ser63Ter