Canonical Allele Identifier: CA348858995

Gene: MBD5

Linked Data

• MyVariant Identifiers: chr2:g.149260018A>T (hg19) ; chr2:g.148502449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502449A>T , CM000664.2:g.148502449A>T	GRCh38
NC_000002.11:g.149260018A>T , CM000664.1:g.149260018A>T	GRCh37
NC_000002.10:g.148976488A>T	NCBI36
NG_017003.1:g.486439A>T
NG_017003.2:g.486439A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2906A>T
ENST00000637835.1:n.7A>T
ENST00000638043.2:c.4316A>T	ENSP00000490728.2:p.Lys1439Met
ENST00000642680.2:c.4976A>T MANE Select	ENSP00000493871.2:p.Lys1659Met
ENST00000404807.5:c.4976A>T	ENSP00000384672.1:p.Lys1659Met
ENST00000407073.5:c.4277A>T	ENSP00000386049.1:p.Lys1426Met
ENST00000416015.2:c.2986A>T
ENST00000496893.3:n.2058A>T
ENST00000628572.1:c.516A>T	ENSP00000486209.1:n.516A>T
ENST00000629878.2:c.3183A>T	ENSP00000487089.1:p.Glu1061Asp
ENST00000630352.1:c.162-10421A>T
NM_018328.4:c.4277A>T	NP_060798.2:p.Lys1426Met
XM_005263711.2:c.4976A>T	XP_005263768.1:p.Lys1659Met
XM_011511470.1:c.5015A>T	XP_011509772.1:p.Lys1672Met
XM_011511471.1:c.5015A>T	XP_011509773.1:p.Lys1672Met
XM_011511472.1:c.5015A>T	XP_011509774.1:p.Lys1672Met
XM_011511473.1:c.5015A>T	XP_011509775.1:p.Lys1672Met
XM_011511474.1:c.4976A>T	XP_011509776.1:p.Lys1659Met
XM_011511475.1:c.4316A>T	XP_011509777.1:p.Lys1439Met
XM_011511476.1:c.4277A>T	XP_011509778.1:p.Lys1426Met
XR_922967.1:n.6298A>T
XM_011511470.2:c.5015A>T	XP_011509772.1:p.Lys1672Met
XM_011511472.2:c.5015A>T	XP_011509774.1:p.Lys1672Met
XM_024452987.1:c.4976A>T	XP_024308755.1:p.Lys1659Met
XM_024452988.1:c.5015A>T	XP_024308756.1:p.Lys1672Met
XM_024452989.1:c.4976A>T	XP_024308757.1:p.Lys1659Met
XM_024452990.1:c.4316A>T	XP_024308758.1:p.Lys1439Met
XR_002959318.1:n.5381A>T
XR_002959319.1:n.4782A>T
NM_001378120.1:c.4976A>T MANE Select	NP_001365049.1:p.Lys1659Met
NM_018328.5:c.4277A>T	NP_060798.2:p.Lys1426Met