Canonical Allele Identifier: CA348717431
Gene: MBD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 426936
ClinVar RCV Id: RCV000490051
dbSNP Id: rs1085307859
MyVariant Identifiers: chr2:g.149226200C>T (hg19) chr2:g.148468631C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.148468631C>T , CM000664.2:g.148468631C>T GRCh38
NC_000002.11:g.149226200C>T , CM000664.1:g.149226200C>T GRCh37
NC_000002.10:g.148942670C>T NCBI36
NG_017003.1:g.452621C>T
NG_017003.2:g.452621C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638043.2:c.688C>T ENSP00000490728.2:p.Gln230Ter
ENST00000642680.2:c.688C>T MANE Select ENSP00000493871.2:p.Gln230Ter
ENST00000404807.5:c.688C>T ENSP00000384672.1:p.Gln230Ter
ENST00000407073.5:c.688C>T ENSP00000386049.1:p.Gln230Ter
ENST00000627651.2:c.688C>T ENSP00000486370.1:p.Gln230Ter
ENST00000629878.2:c.688C>T ENSP00000487089.1:p.Gln230Ter
NM_018328.4:c.688C>T NP_060798.2:p.Gln230Ter
XM_005263711.2:c.688C>T XP_005263768.1:p.Gln230Ter
XM_011511470.1:c.688C>T XP_011509772.1:p.Gln230Ter
XM_011511471.1:c.688C>T XP_011509773.1:p.Gln230Ter
XM_011511472.1:c.688C>T XP_011509774.1:p.Gln230Ter
XM_011511473.1:c.688C>T XP_011509775.1:p.Gln230Ter
XM_011511474.1:c.688C>T XP_011509776.1:p.Gln230Ter
XM_011511475.1:c.688C>T XP_011509777.1:p.Gln230Ter
XM_011511476.1:c.688C>T XP_011509778.1:p.Gln230Ter
XR_922967.1:n.1917C>T
XM_011511470.2:c.688C>T XP_011509772.1:p.Gln230Ter
XM_011511472.2:c.688C>T XP_011509774.1:p.Gln230Ter
XM_024452987.1:c.688C>T XP_024308755.1:p.Gln230Ter
XM_024452988.1:c.688C>T XP_024308756.1:p.Gln230Ter
XM_024452989.1:c.688C>T XP_024308757.1:p.Gln230Ter
XM_024452990.1:c.688C>T XP_024308758.1:p.Gln230Ter
XR_002959318.1:n.1000C>T
XR_002959319.1:n.1000C>T
NM_001378120.1:c.688C>T MANE Select NP_001365049.1:p.Gln230Ter
NM_018328.5:c.688C>T NP_060798.2:p.Gln230Ter
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