Canonical Allele Identifier: CA3294049

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 354080
• ClinVar RCV Id: RCV000312166 ; RCV000900899 ; RCV003912511
• dbSNP Id: rs147493796
• ExAC: 5:68715665 C / T
• gnomAD v2: 5-68715665-C-T
• gnomAD v3: 5-69419838-C-T
• gnomAD v4: 5-69419838-C-T
• MyVariant Identifiers: chr5:g.68715665C>T (hg19) ; chr5:g.69419838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419838C>T , CM000667.2:g.69419838C>T	GRCh38
NC_000005.9:g.68715665C>T , CM000667.1:g.68715665C>T	GRCh37
NC_000005.8:g.68751421C>T	NCBI36
NG_017201.1:g.9727C>T
NG_017201.2:g.9727C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325631.10:c.453C>T MANE Select	ENSP00000323264.5:p.Asp151=
ENST00000413223.3:c.453C>T	ENSP00000398922.2:p.Asp151=
ENST00000436532.7:c.453C>T	ENSP00000414776.2:p.Asp151=
ENST00000645446.1:c.453C>T	ENSP00000494616.1:p.Asp151=
ENST00000647531.1:c.453C>T	ENSP00000493858.1:p.Asp151=
ENST00000325631.9:c.453C>T	ENSP00000323264.5:p.Asp151=
ENST00000413223.2:c.453C>T	ENSP00000398922.2:p.Asp151=
ENST00000436532.6:c.453C>T	ENSP00000414776.2:p.Asp151=
ENST00000454295.6:c.453C>T	ENSP00000396244.2:p.Asp151=
ENST00000512803.5:c.453C>T	ENSP00000423490.1:p.Asp151=
NM_001038603.2:c.453C>T	NP_001033692.2:p.Asp151=
NM_001244734.1:c.453C>T	NP_001231663.1:p.Asp151=
XM_005248445.3:c.453C>T	XP_005248502.1:p.Asp151=
XM_005248446.3:c.453C>T	XP_005248503.1:p.Asp151=
XM_005248447.3:c.453C>T	XP_005248504.1:p.Asp151=
XM_005248445.4:c.453C>T	XP_005248502.1:p.Asp151=
XM_005248446.4:c.453C>T	XP_005248503.1:p.Asp151=
XM_005248447.4:c.453C>T	XP_005248504.1:p.Asp151=
NM_001038603.3:c.453C>T MANE Select	NP_001033692.2:p.Asp151=
NM_001244734.2:c.453C>T	NP_001231663.1:p.Asp151=