Canonical Allele Identifier: CA3294139

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 2359100
• ClinVar RCV Id: RCV002974614
• dbSNP Id: rs200849891
• ExAC: 5:68716134 G / C
• gnomAD v2: 5-68716134-G-C
• gnomAD v3: 5-69420307-G-C
• gnomAD v4: 5-69420307-G-C
• MyVariant Identifiers: chr5:g.68716134G>C (hg19) ; chr5:g.69420307G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420307G>C , CM000667.2:g.69420307G>C	GRCh38
NC_000005.9:g.68716134G>C , CM000667.1:g.68716134G>C	GRCh37
NC_000005.8:g.68751890G>C	NCBI36
NG_017201.1:g.10196G>C
NG_017201.2:g.10196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.922G>C MANE Select	ENSP00000323264.5:p.Ala308Pro
ENST00000413223.3:c.726-152G>C	ENSP00000398922.2:n.726-152G>C
ENST00000436532.7:c.726-152G>C	ENSP00000414776.2:n.726-152G>C
ENST00000645446.1:c.922G>C	ENSP00000494616.1:p.Ala308Pro
ENST00000647531.1:c.922G>C	ENSP00000493858.1:p.Ala308Pro
ENST00000325631.9:c.922G>C	ENSP00000323264.5:p.Ala308Pro
ENST00000413223.2:c.726-152G>C	ENSP00000398922.2:n.726-152G>C
ENST00000436532.6:c.726-152G>C	ENSP00000414776.2:n.726-152G>C
ENST00000454295.6:c.922G>C	ENSP00000396244.2:p.Ala308Pro
ENST00000512803.5:c.922G>C	ENSP00000423490.1:p.Ala308Pro
NM_001038603.2:c.922G>C	NP_001033692.2:p.Ala308Pro
NM_001244734.1:c.922G>C	NP_001231663.1:p.Ala308Pro
XM_005248445.3:c.922G>C	XP_005248502.1:p.Ala308Pro
XM_005248446.3:c.922G>C	XP_005248503.1:p.Ala308Pro
XM_005248447.3:c.922G>C	XP_005248504.1:p.Ala308Pro
XM_005248445.4:c.922G>C	XP_005248502.1:p.Ala308Pro
XM_005248446.4:c.922G>C	XP_005248503.1:p.Ala308Pro
XM_005248447.4:c.922G>C	XP_005248504.1:p.Ala308Pro
NM_001038603.3:c.922G>C MANE Select	NP_001033692.2:p.Ala308Pro
NM_001244734.2:c.922G>C	NP_001231663.1:p.Ala308Pro