Canonical Allele Identifier: CA2499217882
Gene: MARVELD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299311
ClinVar RCV Id: RCV001728010
dbSNP Id: rs2150914115

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69419993dup , CM000667.2:g.69419993dup GRCh38
NC_000005.9:g.68715820dup , CM000667.1:g.68715820dup GRCh37
NC_000005.8:g.68751576dup NCBI36
NG_017201.1:g.9882dup
NG_017201.2:g.9882dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.608dup MANE Select ENSP00000323264.5:p.Leu203PhefsTer18
ENST00000413223.3:c.608dup ENSP00000398922.2:p.Leu203PhefsTer18
ENST00000436532.7:c.608dup ENSP00000414776.2:p.Leu203PhefsTer18
ENST00000645446.1:c.608dup ENSP00000494616.1:p.Leu203PhefsTer18
ENST00000647531.1:c.608dup ENSP00000493858.1:p.Leu203PhefsTer18
ENST00000325631.9:c.608dup ENSP00000323264.5:p.Leu203PhefsTer18
ENST00000413223.2:c.608dup ENSP00000398922.2:p.Leu203PhefsTer18
ENST00000436532.6:c.608dup ENSP00000414776.2:p.Leu203PhefsTer18
ENST00000454295.6:c.608dup ENSP00000396244.2:p.Leu203PhefsTer18
ENST00000512803.5:c.608dup ENSP00000423490.1:p.Leu203PhefsTer18
NM_001038603.2:c.608dup NP_001033692.2:p.Leu203PhefsTer18
NM_001244734.1:c.608dup NP_001231663.1:p.Leu203PhefsTer18
XM_005248445.3:c.608dup XP_005248502.1:p.Leu203PhefsTer18
XM_005248446.3:c.608dup XP_005248503.1:p.Leu203PhefsTer18
XM_005248447.3:c.608dup XP_005248504.1:p.Leu203PhefsTer18
XM_005248445.4:c.608dup XP_005248502.1:p.Leu203PhefsTer18
XM_005248446.4:c.608dup XP_005248503.1:p.Leu203PhefsTer18
XM_005248447.4:c.608dup XP_005248504.1:p.Leu203PhefsTer18
NM_001038603.3:c.608dup MANE Select NP_001033692.2:p.Leu203PhefsTer18
NM_001244734.2:c.608dup NP_001231663.1:p.Leu203PhefsTer18