Canonical Allele Identifier: CA120002857

Gene: MARVELD2

Linked Data

• dbSNP Id: rs187276289
• gnomAD v3: 5-69433287-C-T
• gnomAD v4: 5-69433287-C-T
• MyVariant Identifiers: chr5:g.68729114C>T (hg19) ; chr5:g.69433287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69433287C>T , CM000667.2:g.69433287C>T	GRCh38
NC_000005.9:g.68729114C>T , CM000667.1:g.68729114C>T	GRCh37
NC_000005.8:g.68764870C>T	NCBI36
NG_017201.1:g.23176C>T
NG_017201.2:g.23176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1503+194C>T MANE Select	ENSP00000323264.5:n.1503+194C>T
ENST00000413223.3:c.1155+194C>T	ENSP00000398922.2:n.1155+194C>T
ENST00000436532.7:c.1155+194C>T	ENSP00000414776.2:n.1155+194C>T
ENST00000645446.1:c.1503+194C>T	ENSP00000494616.1:n.1503+194C>T
ENST00000647531.1:c.1467+194C>T	ENSP00000493858.1:n.1467+194C>T
ENST00000325631.9:c.1503+194C>T	ENSP00000323264.5:n.1503+194C>T
ENST00000413223.2:c.1155+194C>T	ENSP00000398922.2:n.1155+194C>T
ENST00000436532.6:c.1155+194C>T	ENSP00000414776.2:n.1155+194C>T
ENST00000454295.6:c.1467+194C>T	ENSP00000396244.2:n.1467+194C>T
ENST00000512803.5:c.1503+194C>T	ENSP00000423490.1:n.1503+194C>T
NM_001038603.2:c.1503+194C>T	NP_001033692.2:n.1503+194C>T
NM_001244734.1:c.1467+194C>T	NP_001231663.1:n.1467+194C>T
XM_005248445.3:c.1503+194C>T	XP_005248502.1:n.1503+194C>T
XM_005248446.3:c.1503+194C>T	XP_005248503.1:n.1503+194C>T
XM_005248447.3:c.1467+194C>T	XP_005248504.1:n.1467+194C>T
XM_005248445.4:c.1503+194C>T	XP_005248502.1:n.1503+194C>T
XM_005248446.4:c.1503+194C>T	XP_005248503.1:n.1503+194C>T
XM_005248447.4:c.1467+194C>T	XP_005248504.1:n.1467+194C>T
NM_001038603.3:c.1503+194C>T MANE Select	NP_001033692.2:n.1503+194C>T
NM_001244734.2:c.1467+194C>T	NP_001231663.1:n.1467+194C>T