Canonical Allele Identifier: CA359924378

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69420121-T-C
• MyVariant Identifiers: chr5:g.68715948T>C (hg19) ; chr5:g.69420121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420121T>C , CM000667.2:g.69420121T>C	GRCh38
NC_000005.9:g.68715948T>C , CM000667.1:g.68715948T>C	GRCh37
NC_000005.8:g.68751704T>C	NCBI36
NG_017201.1:g.10010T>C
NG_017201.2:g.10010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.736T>C MANE Select	ENSP00000323264.5:p.Tyr246His
ENST00000413223.3:c.725+11T>C	ENSP00000398922.2:n.725+11T>C
ENST00000436532.7:c.725+11T>C	ENSP00000414776.2:n.725+11T>C
ENST00000645446.1:c.736T>C	ENSP00000494616.1:p.Tyr246His
ENST00000647531.1:c.736T>C	ENSP00000493858.1:p.Tyr246His
ENST00000325631.9:c.736T>C	ENSP00000323264.5:p.Tyr246His
ENST00000413223.2:c.725+11T>C	ENSP00000398922.2:n.725+11T>C
ENST00000436532.6:c.725+11T>C	ENSP00000414776.2:n.725+11T>C
ENST00000454295.6:c.736T>C	ENSP00000396244.2:p.Tyr246His
ENST00000512803.5:c.736T>C	ENSP00000423490.1:p.Tyr246His
NM_001038603.2:c.736T>C	NP_001033692.2:p.Tyr246His
NM_001244734.1:c.736T>C	NP_001231663.1:p.Tyr246His
XM_005248445.3:c.736T>C	XP_005248502.1:p.Tyr246His
XM_005248446.3:c.736T>C	XP_005248503.1:p.Tyr246His
XM_005248447.3:c.736T>C	XP_005248504.1:p.Tyr246His
XM_005248445.4:c.736T>C	XP_005248502.1:p.Tyr246His
XM_005248446.4:c.736T>C	XP_005248503.1:p.Tyr246His
XM_005248447.4:c.736T>C	XP_005248504.1:p.Tyr246His
NM_001038603.3:c.736T>C MANE Select	NP_001033692.2:p.Tyr246His
NM_001244734.2:c.736T>C	NP_001231663.1:p.Tyr246His