Canonical Allele Identifier: CA2674131531

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69433204-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69433204C>A , CM000667.2:g.69433204C>A	GRCh38
NC_000005.9:g.68729031C>A , CM000667.1:g.68729031C>A	GRCh37
NC_000005.8:g.68764787C>A	NCBI36
NG_017201.1:g.23093C>A
NG_017201.2:g.23093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1503+111C>A MANE Select	ENSP00000323264.5:n.1503+111C>A
ENST00000413223.3:c.1155+111C>A	ENSP00000398922.2:n.1155+111C>A
ENST00000436532.7:c.1155+111C>A	ENSP00000414776.2:n.1155+111C>A
ENST00000645446.1:c.1503+111C>A	ENSP00000494616.1:n.1503+111C>A
ENST00000647531.1:c.1467+111C>A	ENSP00000493858.1:n.1467+111C>A
ENST00000325631.9:c.1503+111C>A	ENSP00000323264.5:n.1503+111C>A
ENST00000413223.2:c.1155+111C>A	ENSP00000398922.2:n.1155+111C>A
ENST00000436532.6:c.1155+111C>A	ENSP00000414776.2:n.1155+111C>A
ENST00000454295.6:c.1467+111C>A	ENSP00000396244.2:n.1467+111C>A
ENST00000512803.5:c.1503+111C>A	ENSP00000423490.1:n.1503+111C>A
NM_001038603.2:c.1503+111C>A	NP_001033692.2:n.1503+111C>A
NM_001244734.1:c.1467+111C>A	NP_001231663.1:n.1467+111C>A
XM_005248445.3:c.1503+111C>A	XP_005248502.1:n.1503+111C>A
XM_005248446.3:c.1503+111C>A	XP_005248503.1:n.1503+111C>A
XM_005248447.3:c.1467+111C>A	XP_005248504.1:n.1467+111C>A
XM_005248445.4:c.1503+111C>A	XP_005248502.1:n.1503+111C>A
XM_005248446.4:c.1503+111C>A	XP_005248503.1:n.1503+111C>A
XM_005248447.4:c.1467+111C>A	XP_005248504.1:n.1467+111C>A
NM_001038603.3:c.1503+111C>A MANE Select	NP_001033692.2:n.1503+111C>A
NM_001244734.2:c.1467+111C>A	NP_001231663.1:n.1467+111C>A