Canonical Allele Identifier: CA182270

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 178409
• ClinVar RCV Id: RCV000155157 ; RCV000515431 ; RCV000724698
• dbSNP Id: rs72773422
• ExAC: 5:68716110 T / A
• gnomAD v2: 5-68716110-T-A
• gnomAD v3: 5-69420283-T-A
• gnomAD v4: 5-69420283-T-A
• COSMIC: COSM3697300
• MyVariant Identifiers: chr5:g.68716110T>A (hg19) ; chr5:g.69420283T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420283T>A , CM000667.2:g.69420283T>A	GRCh38
NC_000005.9:g.68716110T>A , CM000667.1:g.68716110T>A	GRCh37
NC_000005.8:g.68751866T>A	NCBI36
NG_017201.1:g.10172T>A
NG_017201.2:g.10172T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325631.10:c.898T>A MANE Select	ENSP00000323264.5:p.Leu300Met
ENST00000413223.3:c.725+173T>A	ENSP00000398922.2:n.725+173T>A
ENST00000436532.7:c.725+173T>A	ENSP00000414776.2:n.725+173T>A
ENST00000645446.1:c.898T>A	ENSP00000494616.1:p.Leu300Met
ENST00000647531.1:c.898T>A	ENSP00000493858.1:p.Leu300Met
ENST00000325631.9:c.898T>A	ENSP00000323264.5:p.Leu300Met
ENST00000413223.2:c.725+173T>A	ENSP00000398922.2:n.725+173T>A
ENST00000436532.6:c.725+173T>A	ENSP00000414776.2:n.725+173T>A
ENST00000454295.6:c.898T>A	ENSP00000396244.2:p.Leu300Met
ENST00000512803.5:c.898T>A	ENSP00000423490.1:p.Leu300Met
NM_001038603.2:c.898T>A	NP_001033692.2:p.Leu300Met
NM_001244734.1:c.898T>A	NP_001231663.1:p.Leu300Met
XM_005248445.3:c.898T>A	XP_005248502.1:p.Leu300Met
XM_005248446.3:c.898T>A	XP_005248503.1:p.Leu300Met
XM_005248447.3:c.898T>A	XP_005248504.1:p.Leu300Met
XM_005248445.4:c.898T>A	XP_005248502.1:p.Leu300Met
XM_005248446.4:c.898T>A	XP_005248503.1:p.Leu300Met
XM_005248447.4:c.898T>A	XP_005248504.1:p.Leu300Met
NM_001038603.3:c.898T>A MANE Select	NP_001033692.2:p.Leu300Met
NM_001244734.2:c.898T>A	NP_001231663.1:p.Leu300Met