Canonical Allele Identifier: CA348859009

Gene: MBD5

Linked Data

• dbSNP Id: rs1468480856
• gnomAD v2: 2-149260024-A-G
• gnomAD v4: 2-148502455-A-G
• MyVariant Identifiers: chr2:g.149260024A>G (hg19) ; chr2:g.148502455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502455A>G , CM000664.2:g.148502455A>G	GRCh38
NC_000002.11:g.149260024A>G , CM000664.1:g.149260024A>G	GRCh37
NC_000002.10:g.148976494A>G	NCBI36
NG_017003.1:g.486445A>G
NG_017003.2:g.486445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2912A>G
ENST00000637835.1:n.13A>G
ENST00000638043.2:c.4322A>G	ENSP00000490728.2:p.Lys1441Arg
ENST00000642680.2:c.4982A>G MANE Select	ENSP00000493871.2:p.Lys1661Arg
ENST00000404807.5:c.4982A>G	ENSP00000384672.1:p.Lys1661Arg
ENST00000407073.5:c.4283A>G	ENSP00000386049.1:p.Lys1428Arg
ENST00000416015.2:c.2992A>G
ENST00000496893.3:n.2064A>G
ENST00000628572.1:c.522A>G	ENSP00000486209.1:n.522A>G
ENST00000629878.2:c.3189A>G	ENSP00000487089.1:p.Glu1063=
ENST00000630352.1:c.162-10415A>G
NM_018328.4:c.4283A>G	NP_060798.2:p.Lys1428Arg
XM_005263711.2:c.4982A>G	XP_005263768.1:p.Lys1661Arg
XM_011511470.1:c.5021A>G	XP_011509772.1:p.Lys1674Arg
XM_011511471.1:c.5021A>G	XP_011509773.1:p.Lys1674Arg
XM_011511472.1:c.5021A>G	XP_011509774.1:p.Lys1674Arg
XM_011511473.1:c.5021A>G	XP_011509775.1:p.Lys1674Arg
XM_011511474.1:c.4982A>G	XP_011509776.1:p.Lys1661Arg
XM_011511475.1:c.4322A>G	XP_011509777.1:p.Lys1441Arg
XM_011511476.1:c.4283A>G	XP_011509778.1:p.Lys1428Arg
XR_922967.1:n.6304A>G
XM_011511470.2:c.5021A>G	XP_011509772.1:p.Lys1674Arg
XM_011511472.2:c.5021A>G	XP_011509774.1:p.Lys1674Arg
XM_024452987.1:c.4982A>G	XP_024308755.1:p.Lys1661Arg
XM_024452988.1:c.5021A>G	XP_024308756.1:p.Lys1674Arg
XM_024452989.1:c.4982A>G	XP_024308757.1:p.Lys1661Arg
XM_024452990.1:c.4322A>G	XP_024308758.1:p.Lys1441Arg
XR_002959318.1:n.5387A>G
XR_002959319.1:n.4788A>G
NM_001378120.1:c.4982A>G MANE Select	NP_001365049.1:p.Lys1661Arg
NM_018328.5:c.4283A>G	NP_060798.2:p.Lys1428Arg