Canonical Allele Identifier: CA1899990

Gene: MBD5

Linked Data

• ClinVar Variation Id: 420374
• ClinVar RCV Id: RCV000549902 ; RCV001255043 ; RCV001704616 ; RCV002367633
• dbSNP Id: rs761118931
• ExAC: 2:149226746 G / A
• gnomAD v2: 2-149226746-G-A
• gnomAD v3: 2-148469177-G-A
• gnomAD v4: 2-148469177-G-A
• MyVariant Identifiers: chr2:g.149226746G>A (hg19) ; chr2:g.148469177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148469177G>A , CM000664.2:g.148469177G>A	GRCh38
NC_000002.11:g.149226746G>A , CM000664.1:g.149226746G>A	GRCh37
NC_000002.10:g.148943216G>A	NCBI36
NG_017003.1:g.453167G>A
NG_017003.2:g.453167G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000638043.2:c.1234G>A	ENSP00000490728.2:p.Val412Ile
ENST00000642680.2:c.1234G>A MANE Select	ENSP00000493871.2:p.Val412Ile
ENST00000404807.5:c.1234G>A	ENSP00000384672.1:p.Val412Ile
ENST00000407073.5:c.1234G>A	ENSP00000386049.1:p.Val412Ile
ENST00000416015.2:c.453G>A
ENST00000627651.2:c.1234G>A	ENSP00000486370.1:p.Val412Ile
ENST00000629878.2:c.1234G>A	ENSP00000487089.1:p.Val412Ile
NM_018328.4:c.1234G>A	NP_060798.2:p.Val412Ile
XM_005263711.2:c.1234G>A	XP_005263768.1:p.Val412Ile
XM_011511470.1:c.1234G>A	XP_011509772.1:p.Val412Ile
XM_011511471.1:c.1234G>A	XP_011509773.1:p.Val412Ile
XM_011511472.1:c.1234G>A	XP_011509774.1:p.Val412Ile
XM_011511473.1:c.1234G>A	XP_011509775.1:p.Val412Ile
XM_011511474.1:c.1234G>A	XP_011509776.1:p.Val412Ile
XM_011511475.1:c.1234G>A	XP_011509777.1:p.Val412Ile
XM_011511476.1:c.1234G>A	XP_011509778.1:p.Val412Ile
XR_922967.1:n.2463G>A
XM_011511470.2:c.1234G>A	XP_011509772.1:p.Val412Ile
XM_011511472.2:c.1234G>A	XP_011509774.1:p.Val412Ile
XM_024452987.1:c.1234G>A	XP_024308755.1:p.Val412Ile
XM_024452988.1:c.1234G>A	XP_024308756.1:p.Val412Ile
XM_024452989.1:c.1234G>A	XP_024308757.1:p.Val412Ile
XM_024452990.1:c.1234G>A	XP_024308758.1:p.Val412Ile
XR_002959318.1:n.1546G>A
XR_002959319.1:n.1546G>A
NM_001378120.1:c.1234G>A MANE Select	NP_001365049.1:p.Val412Ile
NM_018328.5:c.1234G>A	NP_060798.2:p.Val412Ile