Canonical Allele Identifier: CA3294043

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 2964947
• ClinVar RCV Id: RCV003828569
• dbSNP Id: rs370885460
• ExAC: 5:68715642 T / G
• gnomAD v2: 5-68715642-T-G
• gnomAD v3: 5-69419815-T-G
• gnomAD v4: 5-69419815-T-G
• MyVariant Identifiers: chr5:g.68715642T>G (hg19) ; chr5:g.69419815T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419815T>G , CM000667.2:g.69419815T>G	GRCh38
NC_000005.9:g.68715642T>G , CM000667.1:g.68715642T>G	GRCh37
NC_000005.8:g.68751398T>G	NCBI36
NG_017201.1:g.9704T>G
NG_017201.2:g.9704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.430T>G MANE Select	ENSP00000323264.5:p.Phe144Val
ENST00000413223.3:c.430T>G	ENSP00000398922.2:p.Phe144Val
ENST00000436532.7:c.430T>G	ENSP00000414776.2:p.Phe144Val
ENST00000645446.1:c.430T>G	ENSP00000494616.1:p.Phe144Val
ENST00000647531.1:c.430T>G	ENSP00000493858.1:p.Phe144Val
ENST00000325631.9:c.430T>G	ENSP00000323264.5:p.Phe144Val
ENST00000413223.2:c.430T>G	ENSP00000398922.2:p.Phe144Val
ENST00000436532.6:c.430T>G	ENSP00000414776.2:p.Phe144Val
ENST00000454295.6:c.430T>G	ENSP00000396244.2:p.Phe144Val
ENST00000512803.5:c.430T>G	ENSP00000423490.1:p.Phe144Val
ENST00000515844.1:c.430T>G	ENSP00000421902.1:p.Phe144Val
NM_001038603.2:c.430T>G	NP_001033692.2:p.Phe144Val
NM_001244734.1:c.430T>G	NP_001231663.1:p.Phe144Val
XM_005248445.3:c.430T>G	XP_005248502.1:p.Phe144Val
XM_005248446.3:c.430T>G	XP_005248503.1:p.Phe144Val
XM_005248447.3:c.430T>G	XP_005248504.1:p.Phe144Val
XM_005248445.4:c.430T>G	XP_005248502.1:p.Phe144Val
XM_005248446.4:c.430T>G	XP_005248503.1:p.Phe144Val
XM_005248447.4:c.430T>G	XP_005248504.1:p.Phe144Val
NM_001038603.3:c.430T>G MANE Select	NP_001033692.2:p.Phe144Val
NM_001244734.2:c.430T>G	NP_001231663.1:p.Phe144Val