Canonical Allele Identifier: CA1900509

Gene: MBD5

Linked Data

• ClinVar Variation Id: 435826
• ClinVar RCV Id: RCV000504040 ; RCV000781978 ; RCV000887625 ; RCV001452025 ; RCV002329200
• dbSNP Id: rs775673512
• ExAC: 2:149260012 C / A
• gnomAD v2: 2-149260012-C-A
• gnomAD v3: 2-148502443-C-A
• gnomAD v4: 2-148502443-C-A
• MyVariant Identifiers: chr2:g.149260012C>A (hg19) ; chr2:g.148502443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502443C>A , CM000664.2:g.148502443C>A	GRCh38
NC_000002.11:g.149260012C>A , CM000664.1:g.149260012C>A	GRCh37
NC_000002.10:g.148976482C>A	NCBI36
NG_017003.1:g.486433C>A
NG_017003.2:g.486433C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000628572.2:c.2900C>A
ENST00000637835.1:n.1C>A
ENST00000638043.2:c.4310C>A	ENSP00000490728.2:p.Pro1437His
ENST00000642680.2:c.4970C>A MANE Select	ENSP00000493871.2:p.Pro1657His
ENST00000404807.5:c.4970C>A	ENSP00000384672.1:p.Pro1657His
ENST00000407073.5:c.4271C>A	ENSP00000386049.1:p.Pro1424His
ENST00000416015.2:c.2980C>A
ENST00000496893.3:n.2052C>A
ENST00000628572.1:c.510C>A	ENSP00000486209.1:n.510C>A
ENST00000629878.2:c.3177C>A	ENSP00000487089.1:p.Ala1059=
ENST00000630352.1:c.162-10427C>A
NM_018328.4:c.4271C>A	NP_060798.2:p.Pro1424His
XM_005263711.2:c.4970C>A	XP_005263768.1:p.Pro1657His
XM_011511470.1:c.5009C>A	XP_011509772.1:p.Pro1670His
XM_011511471.1:c.5009C>A	XP_011509773.1:p.Pro1670His
XM_011511472.1:c.5009C>A	XP_011509774.1:p.Pro1670His
XM_011511473.1:c.5009C>A	XP_011509775.1:p.Pro1670His
XM_011511474.1:c.4970C>A	XP_011509776.1:p.Pro1657His
XM_011511475.1:c.4310C>A	XP_011509777.1:p.Pro1437His
XM_011511476.1:c.4271C>A	XP_011509778.1:p.Pro1424His
XR_922967.1:n.6292C>A
XM_011511470.2:c.5009C>A	XP_011509772.1:p.Pro1670His
XM_011511472.2:c.5009C>A	XP_011509774.1:p.Pro1670His
XM_024452987.1:c.4970C>A	XP_024308755.1:p.Pro1657His
XM_024452988.1:c.5009C>A	XP_024308756.1:p.Pro1670His
XM_024452989.1:c.4970C>A	XP_024308757.1:p.Pro1657His
XM_024452990.1:c.4310C>A	XP_024308758.1:p.Pro1437His
XR_002959318.1:n.5375C>A
XR_002959319.1:n.4776C>A
NM_001378120.1:c.4970C>A MANE Select	NP_001365049.1:p.Pro1657His
NM_018328.5:c.4271C>A	NP_060798.2:p.Pro1424His