Canonical Allele Identifier: CA348859046

Gene: MBD5

Linked Data

• MyVariant Identifiers: chr2:g.149260042T>G (hg19) ; chr2:g.148502473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502473T>G , CM000664.2:g.148502473T>G	GRCh38
NC_000002.11:g.149260042T>G , CM000664.1:g.149260042T>G	GRCh37
NC_000002.10:g.148976512T>G	NCBI36
NG_017003.1:g.486463T>G
NG_017003.2:g.486463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2930T>G
ENST00000637835.1:n.31T>G
ENST00000638043.2:c.4340T>G	ENSP00000490728.2:p.Leu1447Trp
ENST00000642680.2:c.5000T>G MANE Select	ENSP00000493871.2:p.Leu1667Trp
ENST00000404807.5:c.5000T>G	ENSP00000384672.1:p.Leu1667Trp
ENST00000407073.5:c.4301T>G	ENSP00000386049.1:p.Leu1434Trp
ENST00000416015.2:c.3010T>G
ENST00000496893.3:n.2082T>G
ENST00000628572.1:c.540T>G	ENSP00000486209.1:n.540T>G
ENST00000629878.2:c.3207T>G	ENSP00000487089.1:p.Phe1069Leu
ENST00000630352.1:c.162-10397T>G
NM_018328.4:c.4301T>G	NP_060798.2:p.Leu1434Trp
XM_005263711.2:c.5000T>G	XP_005263768.1:p.Leu1667Trp
XM_011511470.1:c.5039T>G	XP_011509772.1:p.Leu1680Trp
XM_011511471.1:c.5039T>G	XP_011509773.1:p.Leu1680Trp
XM_011511472.1:c.5039T>G	XP_011509774.1:p.Leu1680Trp
XM_011511473.1:c.5039T>G	XP_011509775.1:p.Leu1680Trp
XM_011511474.1:c.5000T>G	XP_011509776.1:p.Leu1667Trp
XM_011511475.1:c.4340T>G	XP_011509777.1:p.Leu1447Trp
XM_011511476.1:c.4301T>G	XP_011509778.1:p.Leu1434Trp
XR_922967.1:n.6322T>G
XM_011511470.2:c.5039T>G	XP_011509772.1:p.Leu1680Trp
XM_011511472.2:c.5039T>G	XP_011509774.1:p.Leu1680Trp
XM_024452987.1:c.5000T>G	XP_024308755.1:p.Leu1667Trp
XM_024452988.1:c.5039T>G	XP_024308756.1:p.Leu1680Trp
XM_024452989.1:c.5000T>G	XP_024308757.1:p.Leu1667Trp
XM_024452990.1:c.4340T>G	XP_024308758.1:p.Leu1447Trp
XR_002959318.1:n.5405T>G
XR_002959319.1:n.4806T>G
NM_001378120.1:c.5000T>G MANE Select	NP_001365049.1:p.Leu1667Trp
NM_018328.5:c.4301T>G	NP_060798.2:p.Leu1434Trp