Canonical Allele Identifier: CA359927493

Gene: MARVELD2

Linked Data

• MyVariant Identifiers: chr5:g.68728906T>A (hg19) ; chr5:g.69433079T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69433079T>A , CM000667.2:g.69433079T>A	GRCh38
NC_000005.9:g.68728906T>A , CM000667.1:g.68728906T>A	GRCh37
NC_000005.8:g.68764662T>A	NCBI36
NG_017201.1:g.22968T>A
NG_017201.2:g.22968T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1489T>A MANE Select	ENSP00000323264.5:p.Ser497Thr
ENST00000413223.3:c.1141T>A	ENSP00000398922.2:p.Ser381Thr
ENST00000436532.7:c.1141T>A	ENSP00000414776.2:p.Ser381Thr
ENST00000645446.1:c.1489T>A	ENSP00000494616.1:p.Ser497Thr
ENST00000647531.1:c.1453T>A	ENSP00000493858.1:p.Ser485Thr
ENST00000325631.9:c.1489T>A	ENSP00000323264.5:p.Ser497Thr
ENST00000413223.2:c.1141T>A	ENSP00000398922.2:p.Ser381Thr
ENST00000436532.6:c.1141T>A	ENSP00000414776.2:p.Ser381Thr
ENST00000454295.6:c.1453T>A	ENSP00000396244.2:p.Ser485Thr
ENST00000512803.5:c.1489T>A	ENSP00000423490.1:p.Ser497Thr
NM_001038603.2:c.1489T>A	NP_001033692.2:p.Ser497Thr
NM_001244734.1:c.1453T>A	NP_001231663.1:p.Ser485Thr
XM_005248445.3:c.1489T>A	XP_005248502.1:p.Ser497Thr
XM_005248446.3:c.1489T>A	XP_005248503.1:p.Ser497Thr
XM_005248447.3:c.1453T>A	XP_005248504.1:p.Ser485Thr
XM_005248445.4:c.1489T>A	XP_005248502.1:p.Ser497Thr
XM_005248446.4:c.1489T>A	XP_005248503.1:p.Ser497Thr
XM_005248447.4:c.1453T>A	XP_005248504.1:p.Ser485Thr
NM_001038603.3:c.1489T>A MANE Select	NP_001033692.2:p.Ser497Thr
NM_001244734.2:c.1453T>A	NP_001231663.1:p.Ser485Thr