Canonical Allele Identifier: CA813512861

Gene: MARVELD2

Linked Data

• dbSNP Id: rs1448930949
• MyVariant Identifiers: chr5:g.68729035_68729036insC (hg19) ; chr5:g.69433208_69433209insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69433209dup , CM000667.2:g.69433209dup	GRCh38
NC_000005.9:g.68729036dup , CM000667.1:g.68729036dup	GRCh37
NC_000005.8:g.68764792dup	NCBI36
NG_017201.1:g.23098dup
NG_017201.2:g.23098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1503+116dup MANE Select	ENSP00000323264.5:n.1503+116dup
ENST00000413223.3:c.1155+116dup	ENSP00000398922.2:n.1155+116dup
ENST00000436532.7:c.1155+116dup	ENSP00000414776.2:n.1155+116dup
ENST00000645446.1:c.1503+116dup	ENSP00000494616.1:n.1503+116dup
ENST00000647531.1:c.1467+116dup	ENSP00000493858.1:n.1467+116dup
ENST00000325631.9:c.1503+116dup	ENSP00000323264.5:n.1503+116dup
ENST00000413223.2:c.1155+116dup	ENSP00000398922.2:n.1155+116dup
ENST00000436532.6:c.1155+116dup	ENSP00000414776.2:n.1155+116dup
ENST00000454295.6:c.1467+116dup	ENSP00000396244.2:n.1467+116dup
ENST00000512803.5:c.1503+116dup	ENSP00000423490.1:n.1503+116dup
NM_001038603.2:c.1503+116dup	NP_001033692.2:n.1503+116dup
NM_001244734.1:c.1467+116dup	NP_001231663.1:n.1467+116dup
XM_005248445.3:c.1503+116dup	XP_005248502.1:n.1503+116dup
XM_005248446.3:c.1503+116dup	XP_005248503.1:n.1503+116dup
XM_005248447.3:c.1467+116dup	XP_005248504.1:n.1467+116dup
XM_005248445.4:c.1503+116dup	XP_005248502.1:n.1503+116dup
XM_005248446.4:c.1503+116dup	XP_005248503.1:n.1503+116dup
XM_005248447.4:c.1467+116dup	XP_005248504.1:n.1467+116dup
NM_001038603.3:c.1503+116dup MANE Select	NP_001033692.2:n.1503+116dup
NM_001244734.2:c.1467+116dup	NP_001231663.1:n.1467+116dup