Canonical Allele Identifier: CA348859043

Gene: MBD5

Linked Data

• MyVariant Identifiers: chr2:g.149260041T>A (hg19) ; chr2:g.148502472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502472T>A , CM000664.2:g.148502472T>A	GRCh38
NC_000002.11:g.149260041T>A , CM000664.1:g.149260041T>A	GRCh37
NC_000002.10:g.148976511T>A	NCBI36
NG_017003.1:g.486462T>A
NG_017003.2:g.486462T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2929T>A
ENST00000637835.1:n.30T>A
ENST00000638043.2:c.4339T>A	ENSP00000490728.2:p.Leu1447Met
ENST00000642680.2:c.4999T>A MANE Select	ENSP00000493871.2:p.Leu1667Met
ENST00000404807.5:c.4999T>A	ENSP00000384672.1:p.Leu1667Met
ENST00000407073.5:c.4300T>A	ENSP00000386049.1:p.Leu1434Met
ENST00000416015.2:c.3009T>A
ENST00000496893.3:n.2081T>A
ENST00000628572.1:c.539T>A	ENSP00000486209.1:n.539T>A
ENST00000629878.2:c.3206T>A	ENSP00000487089.1:p.Phe1069Tyr
ENST00000630352.1:c.162-10398T>A
NM_018328.4:c.4300T>A	NP_060798.2:p.Leu1434Met
XM_005263711.2:c.4999T>A	XP_005263768.1:p.Leu1667Met
XM_011511470.1:c.5038T>A	XP_011509772.1:p.Leu1680Met
XM_011511471.1:c.5038T>A	XP_011509773.1:p.Leu1680Met
XM_011511472.1:c.5038T>A	XP_011509774.1:p.Leu1680Met
XM_011511473.1:c.5038T>A	XP_011509775.1:p.Leu1680Met
XM_011511474.1:c.4999T>A	XP_011509776.1:p.Leu1667Met
XM_011511475.1:c.4339T>A	XP_011509777.1:p.Leu1447Met
XM_011511476.1:c.4300T>A	XP_011509778.1:p.Leu1434Met
XR_922967.1:n.6321T>A
XM_011511470.2:c.5038T>A	XP_011509772.1:p.Leu1680Met
XM_011511472.2:c.5038T>A	XP_011509774.1:p.Leu1680Met
XM_024452987.1:c.4999T>A	XP_024308755.1:p.Leu1667Met
XM_024452988.1:c.5038T>A	XP_024308756.1:p.Leu1680Met
XM_024452989.1:c.4999T>A	XP_024308757.1:p.Leu1667Met
XM_024452990.1:c.4339T>A	XP_024308758.1:p.Leu1447Met
XR_002959318.1:n.5404T>A
XR_002959319.1:n.4805T>A
NM_001378120.1:c.4999T>A MANE Select	NP_001365049.1:p.Leu1667Met
NM_018328.5:c.4300T>A	NP_060798.2:p.Leu1434Met