Canonical Allele Identifier: CA3294160

Gene: MARVELD2

Linked Data

• dbSNP Id: rs769853299
• ExAC: 5:68716242 G / A
• gnomAD v2: 5-68716242-G-A
• gnomAD v4: 5-69420415-G-A
• MyVariant Identifiers: chr5:g.68716242G>A (hg19) ; chr5:g.69420415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420415G>A , CM000667.2:g.69420415G>A	GRCh38
NC_000005.9:g.68716242G>A , CM000667.1:g.68716242G>A	GRCh37
NC_000005.8:g.68751998G>A	NCBI36
NG_017201.1:g.10304G>A
NG_017201.2:g.10304G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1030G>A MANE Select	ENSP00000323264.5:p.Ala344Thr
ENST00000413223.3:c.726-44G>A	ENSP00000398922.2:n.726-44G>A
ENST00000436532.7:c.726-44G>A	ENSP00000414776.2:n.726-44G>A
ENST00000645446.1:c.1030G>A	ENSP00000494616.1:p.Ala344Thr
ENST00000647531.1:c.1030G>A	ENSP00000493858.1:p.Ala344Thr
ENST00000325631.9:c.1030G>A	ENSP00000323264.5:p.Ala344Thr
ENST00000413223.2:c.726-44G>A	ENSP00000398922.2:n.726-44G>A
ENST00000436532.6:c.726-44G>A	ENSP00000414776.2:n.726-44G>A
ENST00000454295.6:c.1030G>A	ENSP00000396244.2:p.Ala344Thr
ENST00000512803.5:c.1030G>A	ENSP00000423490.1:p.Ala344Thr
NM_001038603.2:c.1030G>A	NP_001033692.2:p.Ala344Thr
NM_001244734.1:c.1030G>A	NP_001231663.1:p.Ala344Thr
XM_005248445.3:c.1030G>A	XP_005248502.1:p.Ala344Thr
XM_005248446.3:c.1030G>A	XP_005248503.1:p.Ala344Thr
XM_005248447.3:c.1030G>A	XP_005248504.1:p.Ala344Thr
XM_005248445.4:c.1030G>A	XP_005248502.1:p.Ala344Thr
XM_005248446.4:c.1030G>A	XP_005248503.1:p.Ala344Thr
XM_005248447.4:c.1030G>A	XP_005248504.1:p.Ala344Thr
NM_001038603.3:c.1030G>A MANE Select	NP_001033692.2:p.Ala344Thr
NM_001244734.2:c.1030G>A	NP_001231663.1:p.Ala344Thr