Canonical Allele Identifier: CA3293999

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 1203484
• ClinVar RCV Id: RCV001569538
• dbSNP Id: rs112938244
• ExAC: 5:68715427 C / G
• gnomAD v2: 5-68715427-C-G
• gnomAD v3: 5-69419600-C-G
• gnomAD v4: 5-69419600-C-G
• MyVariant Identifiers: chr5:g.68715427C>G (hg19) ; chr5:g.69419600C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419600C>G , CM000667.2:g.69419600C>G	GRCh38
NC_000005.9:g.68715427C>G , CM000667.1:g.68715427C>G	GRCh37
NC_000005.8:g.68751183C>G	NCBI36
NG_017201.1:g.9489C>G
NG_017201.2:g.9489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.215C>G MANE Select	ENSP00000323264.5:p.Ala72Gly
ENST00000413223.3:c.215C>G	ENSP00000398922.2:p.Ala72Gly
ENST00000436532.7:c.215C>G	ENSP00000414776.2:p.Ala72Gly
ENST00000645446.1:c.215C>G	ENSP00000494616.1:p.Ala72Gly
ENST00000647531.1:c.215C>G	ENSP00000493858.1:p.Ala72Gly
ENST00000325631.9:c.215C>G	ENSP00000323264.5:p.Ala72Gly
ENST00000413223.2:c.215C>G	ENSP00000398922.2:p.Ala72Gly
ENST00000436532.6:c.215C>G	ENSP00000414776.2:p.Ala72Gly
ENST00000454295.6:c.215C>G	ENSP00000396244.2:p.Ala72Gly
ENST00000512803.5:c.215C>G	ENSP00000423490.1:p.Ala72Gly
ENST00000515844.1:c.215C>G	ENSP00000421902.1:p.Ala72Gly
NM_001038603.2:c.215C>G	NP_001033692.2:p.Ala72Gly
NM_001244734.1:c.215C>G	NP_001231663.1:p.Ala72Gly
XM_005248445.3:c.215C>G	XP_005248502.1:p.Ala72Gly
XM_005248446.3:c.215C>G	XP_005248503.1:p.Ala72Gly
XM_005248447.3:c.215C>G	XP_005248504.1:p.Ala72Gly
XM_005248445.4:c.215C>G	XP_005248502.1:p.Ala72Gly
XM_005248446.4:c.215C>G	XP_005248503.1:p.Ala72Gly
XM_005248447.4:c.215C>G	XP_005248504.1:p.Ala72Gly
NM_001038603.3:c.215C>G MANE Select	NP_001033692.2:p.Ala72Gly
NM_001244734.2:c.215C>G	NP_001231663.1:p.Ala72Gly