Canonical Allele Identifier: CA247782

Gene: MBD5

Linked Data

• ClinVar Variation Id: 198891
• ClinVar RCV Id: RCV000188125 ; RCV000712260 ; RCV000455290 ; RCV000470089 ; RCV002314674 ; RCV003907633
• dbSNP Id: rs34995577
• ExAC: 2:149221327 G / A
• gnomAD v2: 2-149221327-G-A
• gnomAD v3: 2-148463758-G-A
• gnomAD v4: 2-148463758-G-A
• MyVariant Identifiers: chr2:g.149221327G>A (hg19) ; chr2:g.148463758G>A (hg38)
• PubMed: PMID:21981781 ; PMID:27222293

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148463758G>A , CM000664.2:g.148463758G>A	GRCh38
NC_000002.11:g.149221327G>A , CM000664.1:g.149221327G>A	GRCh37
NC_000002.10:g.148937797G>A	NCBI36
NG_017003.1:g.447748G>A
NG_017003.2:g.447748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638043.2:c.236G>A	ENSP00000490728.2:p.Gly79Glu
ENST00000642680.2:c.236G>A MANE Select	ENSP00000493871.2:p.Gly79Glu
ENST00000404807.5:c.236G>A	ENSP00000384672.1:p.Gly79Glu
ENST00000407073.5:c.236G>A	ENSP00000386049.1:p.Gly79Glu
ENST00000627651.2:c.236G>A	ENSP00000486370.1:p.Gly79Glu
ENST00000629878.2:c.236G>A	ENSP00000487089.1:p.Gly79Glu
NM_018328.4:c.236G>A	NP_060798.2:p.Gly79Glu
XM_005263711.2:c.236G>A	XP_005263768.1:p.Gly79Glu
XM_011511470.1:c.236G>A	XP_011509772.1:p.Gly79Glu
XM_011511471.1:c.236G>A	XP_011509773.1:p.Gly79Glu
XM_011511472.1:c.236G>A	XP_011509774.1:p.Gly79Glu
XM_011511473.1:c.236G>A	XP_011509775.1:p.Gly79Glu
XM_011511474.1:c.236G>A	XP_011509776.1:p.Gly79Glu
XM_011511475.1:c.236G>A	XP_011509777.1:p.Gly79Glu
XM_011511476.1:c.236G>A	XP_011509778.1:p.Gly79Glu
XR_922967.1:n.1465G>A
XM_011511470.2:c.236G>A	XP_011509772.1:p.Gly79Glu
XM_011511472.2:c.236G>A	XP_011509774.1:p.Gly79Glu
XM_024452987.1:c.236G>A	XP_024308755.1:p.Gly79Glu
XM_024452988.1:c.236G>A	XP_024308756.1:p.Gly79Glu
XM_024452989.1:c.236G>A	XP_024308757.1:p.Gly79Glu
XM_024452990.1:c.236G>A	XP_024308758.1:p.Gly79Glu
XR_002959318.1:n.548G>A
XR_002959319.1:n.548G>A
NM_001378120.1:c.236G>A MANE Select	NP_001365049.1:p.Gly79Glu
NM_018328.5:c.236G>A	NP_060798.2:p.Gly79Glu