Canonical Allele Identifier: CA359924367

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69420115-G-T
• MyVariant Identifiers: chr5:g.68715942G>T (hg19) ; chr5:g.69420115G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420115G>T , CM000667.2:g.69420115G>T	GRCh38
NC_000005.9:g.68715942G>T , CM000667.1:g.68715942G>T	GRCh37
NC_000005.8:g.68751698G>T	NCBI36
NG_017201.1:g.10004G>T
NG_017201.2:g.10004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.730G>T MANE Select	ENSP00000323264.5:p.Gly244Trp
ENST00000413223.3:c.725+5G>T	ENSP00000398922.2:n.725+5G>T
ENST00000436532.7:c.725+5G>T	ENSP00000414776.2:n.725+5G>T
ENST00000645446.1:c.730G>T	ENSP00000494616.1:p.Gly244Trp
ENST00000647531.1:c.730G>T	ENSP00000493858.1:p.Gly244Trp
ENST00000325631.9:c.730G>T	ENSP00000323264.5:p.Gly244Trp
ENST00000413223.2:c.725+5G>T	ENSP00000398922.2:n.725+5G>T
ENST00000436532.6:c.725+5G>T	ENSP00000414776.2:n.725+5G>T
ENST00000454295.6:c.730G>T	ENSP00000396244.2:p.Gly244Trp
ENST00000512803.5:c.730G>T	ENSP00000423490.1:p.Gly244Trp
NM_001038603.2:c.730G>T	NP_001033692.2:p.Gly244Trp
NM_001244734.1:c.730G>T	NP_001231663.1:p.Gly244Trp
XM_005248445.3:c.730G>T	XP_005248502.1:p.Gly244Trp
XM_005248446.3:c.730G>T	XP_005248503.1:p.Gly244Trp
XM_005248447.3:c.730G>T	XP_005248504.1:p.Gly244Trp
XM_005248445.4:c.730G>T	XP_005248502.1:p.Gly244Trp
XM_005248446.4:c.730G>T	XP_005248503.1:p.Gly244Trp
XM_005248447.4:c.730G>T	XP_005248504.1:p.Gly244Trp
NM_001038603.3:c.730G>T MANE Select	NP_001033692.2:p.Gly244Trp
NM_001244734.2:c.730G>T	NP_001231663.1:p.Gly244Trp