Canonical Allele Identifier: CA536895869

Gene: MBD5

Linked Data

• dbSNP Id: rs1265019544
• gnomAD v2: 2-149260000-C-T
• gnomAD v4: 2-148502431-C-T
• MyVariant Identifiers: chr2:g.149260000C>T (hg19) ; chr2:g.148502431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502431C>T , CM000664.2:g.148502431C>T	GRCh38
NC_000002.11:g.149260000C>T , CM000664.1:g.149260000C>T	GRCh37
NC_000002.10:g.148976470C>T	NCBI36
NG_017003.1:g.486421C>T
NG_017003.2:g.486421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2893-5C>T
ENST00000638043.2:c.4298C>T	ENSP00000490728.2:p.Thr1433Ile
ENST00000642680.2:c.4963-5C>T MANE Select	ENSP00000493871.2:n.4963-5C>T
ENST00000404807.5:c.4963-5C>T	ENSP00000384672.1:n.4963-5C>T
ENST00000407073.5:c.4264-5C>T	ENSP00000386049.1:n.4264-5C>T
ENST00000416015.2:c.2973-5C>T
ENST00000496893.3:n.2045-5C>T
ENST00000628572.1:c.503-5C>T	ENSP00000486209.1:n.503-5C>T
ENST00000629878.2:c.3170-5C>T	ENSP00000487089.1:n.3170-5C>T
ENST00000630352.1:c.162-10439C>T
NM_018328.4:c.4264-5C>T	NP_060798.2:n.4264-5C>T
XM_005263711.2:c.4963-5C>T	XP_005263768.1:n.4963-5C>T
XM_011511470.1:c.4997C>T	XP_011509772.1:p.Thr1666Ile
XM_011511471.1:c.4997C>T	XP_011509773.1:p.Thr1666Ile
XM_011511472.1:c.4997C>T	XP_011509774.1:p.Thr1666Ile
XM_011511473.1:c.4997C>T	XP_011509775.1:p.Thr1666Ile
XM_011511474.1:c.4963-5C>T	XP_011509776.1:n.4963-5C>T
XM_011511475.1:c.4298C>T	XP_011509777.1:p.Thr1433Ile
XM_011511476.1:c.4264-5C>T	XP_011509778.1:n.4264-5C>T
XR_922967.1:n.6285-5C>T
XM_011511470.2:c.4997C>T	XP_011509772.1:p.Thr1666Ile
XM_011511472.2:c.4997C>T	XP_011509774.1:p.Thr1666Ile
XM_024452987.1:c.4963-5C>T	XP_024308755.1:n.4963-5C>T
XM_024452988.1:c.4997C>T	XP_024308756.1:p.Thr1666Ile
XM_024452989.1:c.4963-5C>T	XP_024308757.1:n.4963-5C>T
XM_024452990.1:c.4298C>T	XP_024308758.1:p.Thr1433Ile
XR_002959318.1:n.5368-5C>T
XR_002959319.1:n.4769-5C>T
NM_001378120.1:c.4963-5C>T MANE Select	NP_001365049.1:n.4963-5C>T
NM_018328.5:c.4264-5C>T	NP_060798.2:n.4264-5C>T