Canonical Allele Identifier: CA813514914

Gene: MARVELD2

Linked Data

• dbSNP Id: rs1306741045
• gnomAD v3: 5-69441848-C-A
• gnomAD v4: 5-69441848-C-A
• MyVariant Identifiers: chr5:g.68737675C>A (hg19) ; chr5:g.69441848C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69441848C>A , CM000667.2:g.69441848C>A	GRCh38
NC_000005.9:g.68737675C>A , CM000667.1:g.68737675C>A	GRCh37
NC_000005.8:g.68773431C>A	NCBI36
NG_017201.1:g.31737C>A
NG_017201.2:g.31737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.*194C>A MANE Select	ENSP00000323264.5:n.*194C>A
ENST00000413223.3:c.*162+32C>A	ENSP00000398922.2:n.*162+32C>A
ENST00000436532.7:c.1523C>A	ENSP00000414776.2:n.1523C>A
ENST00000645446.1:c.*194C>A	ENSP00000494616.1:n.*194C>A
ENST00000647531.1:c.*194C>A	ENSP00000493858.1:n.*194C>A
ENST00000325631.9:c.*194C>A	ENSP00000323264.5:n.*194C>A
ENST00000413223.2:c.*162+32C>A	ENSP00000398922.2:n.*162+32C>A
ENST00000436532.6:c.*194C>A	ENSP00000414776.2:n.*194C>A
ENST00000454295.6:c.*194C>A	ENSP00000396244.2:n.*194C>A
NM_001038603.2:c.*194C>A	NP_001033692.2:n.*194C>A
NM_001244734.1:c.*194C>A	NP_001231663.1:n.*194C>A
XM_005248445.3:c.*194C>A	XP_005248502.1:n.*194C>A
XM_005248446.3:c.*194C>A	XP_005248503.1:n.*194C>A
XM_005248447.3:c.*194C>A	XP_005248504.1:n.*194C>A
XM_005248445.4:c.*194C>A	XP_005248502.1:n.*194C>A
XM_005248446.4:c.*194C>A	XP_005248503.1:n.*194C>A
XM_005248447.4:c.*194C>A	XP_005248504.1:n.*194C>A
NM_001038603.3:c.*194C>A MANE Select	NP_001033692.2:n.*194C>A
NM_001244734.2:c.*194C>A	NP_001231663.1:n.*194C>A