Canonical Allele Identifier: CA3293989
Gene: MARVELD2 HGNC NCBI

Linked Data

dbSNP Id: rs752821193
gnomAD v2: 5-68715384-G-A
gnomAD v3: 5-69419557-G-A
gnomAD v4: 5-69419557-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419557G>A , CM000667.2:g.69419557G>A GRCh38
NC_000005.9:g.68715384G>A , CM000667.1:g.68715384G>A GRCh37
NC_000005.8:g.68751140G>A NCBI36
NG_017201.1:g.9446G>A
NG_017201.2:g.9446G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.172G>A MANE Select ENSP00000323264.5:p.Gly58Ser
ENST00000413223.3:c.172G>A ENSP00000398922.2:p.Gly58Ser
ENST00000436532.7:c.172G>A ENSP00000414776.2:p.Gly58Ser
ENST00000645446.1:c.172G>A ENSP00000494616.1:p.Gly58Ser
ENST00000647531.1:c.172G>A ENSP00000493858.1:p.Gly58Ser
ENST00000325631.9:c.172G>A ENSP00000323264.5:p.Gly58Ser
ENST00000413223.2:c.172G>A ENSP00000398922.2:p.Gly58Ser
ENST00000436532.6:c.172G>A ENSP00000414776.2:p.Gly58Ser
ENST00000454295.6:c.172G>A ENSP00000396244.2:p.Gly58Ser
ENST00000512803.5:c.172G>A ENSP00000423490.1:p.Gly58Ser
ENST00000515844.1:c.172G>A ENSP00000421902.1:p.Gly58Ser
NM_001038603.2:c.172G>A NP_001033692.2:p.Gly58Ser
NM_001244734.1:c.172G>A NP_001231663.1:p.Gly58Ser
XM_005248445.3:c.172G>A XP_005248502.1:p.Gly58Ser
XM_005248446.3:c.172G>A XP_005248503.1:p.Gly58Ser
XM_005248447.3:c.172G>A XP_005248504.1:p.Gly58Ser
XM_005248445.4:c.172G>A XP_005248502.1:p.Gly58Ser
XM_005248446.4:c.172G>A XP_005248503.1:p.Gly58Ser
XM_005248447.4:c.172G>A XP_005248504.1:p.Gly58Ser
NM_001038603.3:c.172G>A MANE Select NP_001033692.2:p.Gly58Ser
NM_001244734.2:c.172G>A NP_001231663.1:p.Gly58Ser