Canonical Allele Identifier: CA10622116

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 354089
• ClinVar RCV Id: RCV000374495
• dbSNP Id: rs886060733
• MyVariant Identifiers: chr5:g.68716261T>C (hg19) ; chr5:g.69420434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420434T>C , CM000667.2:g.69420434T>C	GRCh38
NC_000005.9:g.68716261T>C , CM000667.1:g.68716261T>C	GRCh37
NC_000005.8:g.68752017T>C	NCBI36
NG_017201.1:g.10323T>C
NG_017201.2:g.10323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1049T>C MANE Select	ENSP00000323264.5:p.Val350Ala
ENST00000413223.3:c.726-25T>C	ENSP00000398922.2:n.726-25T>C
ENST00000436532.7:c.726-25T>C	ENSP00000414776.2:n.726-25T>C
ENST00000645446.1:c.1049T>C	ENSP00000494616.1:p.Val350Ala
ENST00000647531.1:c.1049T>C	ENSP00000493858.1:p.Val350Ala
ENST00000325631.9:c.1049T>C	ENSP00000323264.5:p.Val350Ala
ENST00000413223.2:c.726-25T>C	ENSP00000398922.2:n.726-25T>C
ENST00000436532.6:c.726-25T>C	ENSP00000414776.2:n.726-25T>C
ENST00000454295.6:c.1049T>C	ENSP00000396244.2:p.Val350Ala
ENST00000512803.5:c.1049T>C	ENSP00000423490.1:p.Val350Ala
NM_001038603.2:c.1049T>C	NP_001033692.2:p.Val350Ala
NM_001244734.1:c.1049T>C	NP_001231663.1:p.Val350Ala
XM_005248445.3:c.1049T>C	XP_005248502.1:p.Val350Ala
XM_005248446.3:c.1049T>C	XP_005248503.1:p.Val350Ala
XM_005248447.3:c.1049T>C	XP_005248504.1:p.Val350Ala
XM_005248445.4:c.1049T>C	XP_005248502.1:p.Val350Ala
XM_005248446.4:c.1049T>C	XP_005248503.1:p.Val350Ala
XM_005248447.4:c.1049T>C	XP_005248504.1:p.Val350Ala
NM_001038603.3:c.1049T>C MANE Select	NP_001033692.2:p.Val350Ala
NM_001244734.2:c.1049T>C	NP_001231663.1:p.Val350Ala