Canonical Allele Identifier: CA182264

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 178406
• ClinVar RCV Id: RCV000155154 ; RCV000964126 ; RCV001152768
• dbSNP Id: rs140764671
• ExAC: 5:68715576 G / A
• gnomAD v2: 5-68715576-G-A
• gnomAD v3: 5-69419749-G-A
• gnomAD v4: 5-69419749-G-A
• MyVariant Identifiers: chr5:g.68715576G>A (hg19) ; chr5:g.69419749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419749G>A , CM000667.2:g.69419749G>A	GRCh38
NC_000005.9:g.68715576G>A , CM000667.1:g.68715576G>A	GRCh37
NC_000005.8:g.68751332G>A	NCBI36
NG_017201.1:g.9638G>A
NG_017201.2:g.9638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325631.10:c.364G>A MANE Select	ENSP00000323264.5:p.Ala122Thr
ENST00000413223.3:c.364G>A	ENSP00000398922.2:p.Ala122Thr
ENST00000436532.7:c.364G>A	ENSP00000414776.2:p.Ala122Thr
ENST00000645446.1:c.364G>A	ENSP00000494616.1:p.Ala122Thr
ENST00000647531.1:c.364G>A	ENSP00000493858.1:p.Ala122Thr
ENST00000325631.9:c.364G>A	ENSP00000323264.5:p.Ala122Thr
ENST00000413223.2:c.364G>A	ENSP00000398922.2:p.Ala122Thr
ENST00000436532.6:c.364G>A	ENSP00000414776.2:p.Ala122Thr
ENST00000454295.6:c.364G>A	ENSP00000396244.2:p.Ala122Thr
ENST00000512803.5:c.364G>A	ENSP00000423490.1:p.Ala122Thr
ENST00000515844.1:c.364G>A	ENSP00000421902.1:p.Ala122Thr
NM_001038603.2:c.364G>A	NP_001033692.2:p.Ala122Thr
NM_001244734.1:c.364G>A	NP_001231663.1:p.Ala122Thr
XM_005248445.3:c.364G>A	XP_005248502.1:p.Ala122Thr
XM_005248446.3:c.364G>A	XP_005248503.1:p.Ala122Thr
XM_005248447.3:c.364G>A	XP_005248504.1:p.Ala122Thr
XM_005248445.4:c.364G>A	XP_005248502.1:p.Ala122Thr
XM_005248446.4:c.364G>A	XP_005248503.1:p.Ala122Thr
XM_005248447.4:c.364G>A	XP_005248504.1:p.Ala122Thr
NM_001038603.3:c.364G>A MANE Select	NP_001033692.2:p.Ala122Thr
NM_001244734.2:c.364G>A	NP_001231663.1:p.Ala122Thr