Canonical Allele Identifier: CA3294266
Gene: MARVELD2 HGNC NCBI

Linked Data

dbSNP Id: rs758864840
gnomAD v2: 5-68728897-C-T
gnomAD v4: 5-69433070-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69433070C>T , CM000667.2:g.69433070C>T GRCh38
NC_000005.9:g.68728897C>T , CM000667.1:g.68728897C>T GRCh37
NC_000005.8:g.68764653C>T NCBI36
NG_017201.1:g.22959C>T
NG_017201.2:g.22959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.1480C>T MANE Select ENSP00000323264.5:p.Pro494Ser
ENST00000413223.3:c.1132C>T ENSP00000398922.2:p.Pro378Ser
ENST00000436532.7:c.1132C>T ENSP00000414776.2:p.Pro378Ser
ENST00000645446.1:c.1480C>T ENSP00000494616.1:p.Pro494Ser
ENST00000647531.1:c.1444C>T ENSP00000493858.1:p.Pro482Ser
ENST00000325631.9:c.1480C>T ENSP00000323264.5:p.Pro494Ser
ENST00000413223.2:c.1132C>T ENSP00000398922.2:p.Pro378Ser
ENST00000436532.6:c.1132C>T ENSP00000414776.2:p.Pro378Ser
ENST00000454295.6:c.1444C>T ENSP00000396244.2:p.Pro482Ser
ENST00000512803.5:c.1480C>T ENSP00000423490.1:p.Pro494Ser
NM_001038603.2:c.1480C>T NP_001033692.2:p.Pro494Ser
NM_001244734.1:c.1444C>T NP_001231663.1:p.Pro482Ser
XM_005248445.3:c.1480C>T XP_005248502.1:p.Pro494Ser
XM_005248446.3:c.1480C>T XP_005248503.1:p.Pro494Ser
XM_005248447.3:c.1444C>T XP_005248504.1:p.Pro482Ser
XM_005248445.4:c.1480C>T XP_005248502.1:p.Pro494Ser
XM_005248446.4:c.1480C>T XP_005248503.1:p.Pro494Ser
XM_005248447.4:c.1444C>T XP_005248504.1:p.Pro482Ser
NM_001038603.3:c.1480C>T MANE Select NP_001033692.2:p.Pro494Ser
NM_001244734.2:c.1444C>T NP_001231663.1:p.Pro482Ser