Canonical Allele Identifier: CA429384424

Gene: MBD5

Linked Data

• MyVariant Identifiers: chr2:g.149260058T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502489T>A , CM000664.2:g.148502489T>A	GRCh38
NC_000002.11:g.149260058T>A , CM000664.1:g.149260058T>A	GRCh37
NC_000002.10:g.148976528T>A	NCBI36
NG_017003.1:g.486479T>A
NG_017003.2:g.486479T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2946T>A
ENST00000637835.1:n.47T>A
ENST00000638043.2:c.4356T>A	ENSP00000490728.2:p.Arg1452=
ENST00000642680.2:c.5016T>A MANE Select	ENSP00000493871.2:p.Arg1672=
ENST00000404807.5:c.5016T>A	ENSP00000384672.1:p.Arg1672=
ENST00000407073.5:c.4317T>A	ENSP00000386049.1:p.Arg1439=
ENST00000416015.2:c.3026T>A
ENST00000496893.3:n.2098T>A
ENST00000628572.1:c.556T>A	ENSP00000486209.1:n.556T>A
ENST00000629878.2:c.3223T>A	ENSP00000487089.1:p.Cys1075Ser
ENST00000630352.1:c.162-10381T>A
NM_018328.4:c.4317T>A	NP_060798.2:p.Arg1439=
XM_005263711.2:c.5016T>A	XP_005263768.1:p.Arg1672=
XM_011511470.1:c.5055T>A	XP_011509772.1:p.Arg1685=
XM_011511471.1:c.5055T>A	XP_011509773.1:p.Arg1685=
XM_011511472.1:c.5055T>A	XP_011509774.1:p.Arg1685=
XM_011511473.1:c.5055T>A	XP_011509775.1:p.Arg1685=
XM_011511474.1:c.5016T>A	XP_011509776.1:p.Arg1672=
XM_011511475.1:c.4356T>A	XP_011509777.1:p.Arg1452=
XM_011511476.1:c.4317T>A	XP_011509778.1:p.Arg1439=
XR_922967.1:n.6338T>A
XM_011511470.2:c.5055T>A	XP_011509772.1:p.Arg1685=
XM_011511472.2:c.5055T>A	XP_011509774.1:p.Arg1685=
XM_024452987.1:c.5016T>A	XP_024308755.1:p.Arg1672=
XM_024452988.1:c.5055T>A	XP_024308756.1:p.Arg1685=
XM_024452989.1:c.5016T>A	XP_024308757.1:p.Arg1672=
XM_024452990.1:c.4356T>A	XP_024308758.1:p.Arg1452=
XR_002959318.1:n.5421T>A
XR_002959319.1:n.4822T>A
NM_001378120.1:c.5016T>A MANE Select	NP_001365049.1:p.Arg1672=
NM_018328.5:c.4317T>A	NP_060798.2:p.Arg1439=