Canonical Allele Identifier: CA16603837

Gene: MBD5

Linked Data

• ClinVar Variation Id: 388571
• ClinVar RCV Id: RCV000427445 ; RCV001437961
• dbSNP Id: rs1057523158
• gnomAD v4: 2-148502483-C-T
• MyVariant Identifiers: chr2:g.149260052C>T (hg19) ; chr2:g.148502483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502483C>T , CM000664.2:g.148502483C>T	GRCh38
NC_000002.11:g.149260052C>T , CM000664.1:g.149260052C>T	GRCh37
NC_000002.10:g.148976522C>T	NCBI36
NG_017003.1:g.486473C>T
NG_017003.2:g.486473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2940C>T
ENST00000637835.1:n.41C>T
ENST00000638043.2:c.4350C>T	ENSP00000490728.2:p.Tyr1450=
ENST00000642680.2:c.5010C>T MANE Select	ENSP00000493871.2:p.Tyr1670=
ENST00000404807.5:c.5010C>T	ENSP00000384672.1:p.Tyr1670=
ENST00000407073.5:c.4311C>T	ENSP00000386049.1:p.Tyr1437=
ENST00000416015.2:c.3020C>T
ENST00000496893.3:n.2092C>T
ENST00000628572.1:c.550C>T	ENSP00000486209.1:n.550C>T
ENST00000629878.2:c.3217C>T	ENSP00000487089.1:p.Gln1073Ter
ENST00000630352.1:c.162-10387C>T
NM_018328.4:c.4311C>T	NP_060798.2:p.Tyr1437=
XM_005263711.2:c.5010C>T	XP_005263768.1:p.Tyr1670=
XM_011511470.1:c.5049C>T	XP_011509772.1:p.Tyr1683=
XM_011511471.1:c.5049C>T	XP_011509773.1:p.Tyr1683=
XM_011511472.1:c.5049C>T	XP_011509774.1:p.Tyr1683=
XM_011511473.1:c.5049C>T	XP_011509775.1:p.Tyr1683=
XM_011511474.1:c.5010C>T	XP_011509776.1:p.Tyr1670=
XM_011511475.1:c.4350C>T	XP_011509777.1:p.Tyr1450=
XM_011511476.1:c.4311C>T	XP_011509778.1:p.Tyr1437=
XR_922967.1:n.6332C>T
XM_011511470.2:c.5049C>T	XP_011509772.1:p.Tyr1683=
XM_011511472.2:c.5049C>T	XP_011509774.1:p.Tyr1683=
XM_024452987.1:c.5010C>T	XP_024308755.1:p.Tyr1670=
XM_024452988.1:c.5049C>T	XP_024308756.1:p.Tyr1683=
XM_024452989.1:c.5010C>T	XP_024308757.1:p.Tyr1670=
XM_024452990.1:c.4350C>T	XP_024308758.1:p.Tyr1450=
XR_002959318.1:n.5415C>T
XR_002959319.1:n.4816C>T
NM_001378120.1:c.5010C>T MANE Select	NP_001365049.1:p.Tyr1670=
NM_018328.5:c.4311C>T	NP_060798.2:p.Tyr1437=