Canonical Allele Identifier: CA133013

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 43844
• ClinVar RCV Id: RCV000036811 ; RCV000292080 ; RCV000725874
• dbSNP Id: rs61736168
• ExAC: 5:68728824 C / T
• gnomAD v2: 5-68728824-C-T
• gnomAD v3: 5-69432997-C-T
• gnomAD v4: 5-69432997-C-T
• MyVariant Identifiers: chr5:g.68728824C>T (hg19) ; chr5:g.69432997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69432997C>T , CM000667.2:g.69432997C>T	GRCh38
NC_000005.9:g.68728824C>T , CM000667.1:g.68728824C>T	GRCh37
NC_000005.8:g.68764580C>T	NCBI36
NG_017201.1:g.22886C>T
NG_017201.2:g.22886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1407C>T MANE Select	ENSP00000323264.5:p.Tyr469=
ENST00000413223.3:c.1059C>T	ENSP00000398922.2:p.Tyr353=
ENST00000436532.7:c.1059C>T	ENSP00000414776.2:p.Tyr353=
ENST00000645446.1:c.1407C>T	ENSP00000494616.1:p.Tyr469=
ENST00000647531.1:c.1371C>T	ENSP00000493858.1:p.Tyr457=
ENST00000325631.9:c.1407C>T	ENSP00000323264.5:p.Tyr469=
ENST00000413223.2:c.1059C>T	ENSP00000398922.2:p.Tyr353=
ENST00000436532.6:c.1059C>T	ENSP00000414776.2:p.Tyr353=
ENST00000454295.6:c.1371C>T	ENSP00000396244.2:p.Tyr457=
ENST00000512803.5:c.1407C>T	ENSP00000423490.1:p.Tyr469=
NM_001038603.2:c.1407C>T	NP_001033692.2:p.Tyr469=
NM_001244734.1:c.1371C>T	NP_001231663.1:p.Tyr457=
XM_005248445.3:c.1407C>T	XP_005248502.1:p.Tyr469=
XM_005248446.3:c.1407C>T	XP_005248503.1:p.Tyr469=
XM_005248447.3:c.1371C>T	XP_005248504.1:p.Tyr457=
XM_005248445.4:c.1407C>T	XP_005248502.1:p.Tyr469=
XM_005248446.4:c.1407C>T	XP_005248503.1:p.Tyr469=
XM_005248447.4:c.1371C>T	XP_005248504.1:p.Tyr457=
NM_001038603.3:c.1407C>T MANE Select	NP_001033692.2:p.Tyr469=
NM_001244734.2:c.1371C>T	NP_001231663.1:p.Tyr457=