Canonical Allele Identifier: CA1553913209

Gene: MARVELD2

Linked Data

• dbSNP Id: rs867702570

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69441839G>C , CM000667.2:g.69441839G>C	GRCh38
NC_000005.9:g.68737666G>C , CM000667.1:g.68737666G>C	GRCh37
NC_000005.8:g.68773422G>C	NCBI36
NG_017201.1:g.31728G>C
NG_017201.2:g.31728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.*185G>C MANE Select	ENSP00000323264.5:n.*185G>C
ENST00000413223.3:c.*162+23G>C	ENSP00000398922.2:n.*162+23G>C
ENST00000436532.7:c.1514G>C	ENSP00000414776.2:n.1514G>C
ENST00000645446.1:c.*185G>C	ENSP00000494616.1:n.*185G>C
ENST00000647531.1:c.*185G>C	ENSP00000493858.1:n.*185G>C
ENST00000325631.9:c.*185G>C	ENSP00000323264.5:n.*185G>C
ENST00000413223.2:c.*162+23G>C	ENSP00000398922.2:n.*162+23G>C
ENST00000436532.6:c.*185G>C	ENSP00000414776.2:n.*185G>C
ENST00000454295.6:c.*185G>C	ENSP00000396244.2:n.*185G>C
NM_001038603.2:c.*185G>C	NP_001033692.2:n.*185G>C
NM_001244734.1:c.*185G>C	NP_001231663.1:n.*185G>C
XM_005248445.3:c.*185G>C	XP_005248502.1:n.*185G>C
XM_005248446.3:c.*185G>C	XP_005248503.1:n.*185G>C
XM_005248447.3:c.*185G>C	XP_005248504.1:n.*185G>C
XM_005248445.4:c.*185G>C	XP_005248502.1:n.*185G>C
XM_005248446.4:c.*185G>C	XP_005248503.1:n.*185G>C
XM_005248447.4:c.*185G>C	XP_005248504.1:n.*185G>C
NM_001038603.3:c.*185G>C MANE Select	NP_001033692.2:n.*185G>C
NM_001244734.2:c.*185G>C	NP_001231663.1:n.*185G>C