Canonical Allele Identifier: CA348859026

Gene: MBD5

Linked Data

• gnomAD v4: 2-148502463-A-G
• MyVariant Identifiers: chr2:g.149260032A>G (hg19) ; chr2:g.148502463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502463A>G , CM000664.2:g.148502463A>G	GRCh38
NC_000002.11:g.149260032A>G , CM000664.1:g.149260032A>G	GRCh37
NC_000002.10:g.148976502A>G	NCBI36
NG_017003.1:g.486453A>G
NG_017003.2:g.486453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2920A>G
ENST00000637835.1:n.21A>G
ENST00000638043.2:c.4330A>G	ENSP00000490728.2:p.Thr1444Ala
ENST00000642680.2:c.4990A>G MANE Select	ENSP00000493871.2:p.Thr1664Ala
ENST00000404807.5:c.4990A>G	ENSP00000384672.1:p.Thr1664Ala
ENST00000407073.5:c.4291A>G	ENSP00000386049.1:p.Thr1431Ala
ENST00000416015.2:c.3000A>G
ENST00000496893.3:n.2072A>G
ENST00000628572.1:c.530A>G	ENSP00000486209.1:n.530A>G
ENST00000629878.2:c.3197A>G	ENSP00000487089.1:p.Asn1066Ser
ENST00000630352.1:c.162-10407A>G
NM_018328.4:c.4291A>G	NP_060798.2:p.Thr1431Ala
XM_005263711.2:c.4990A>G	XP_005263768.1:p.Thr1664Ala
XM_011511470.1:c.5029A>G	XP_011509772.1:p.Thr1677Ala
XM_011511471.1:c.5029A>G	XP_011509773.1:p.Thr1677Ala
XM_011511472.1:c.5029A>G	XP_011509774.1:p.Thr1677Ala
XM_011511473.1:c.5029A>G	XP_011509775.1:p.Thr1677Ala
XM_011511474.1:c.4990A>G	XP_011509776.1:p.Thr1664Ala
XM_011511475.1:c.4330A>G	XP_011509777.1:p.Thr1444Ala
XM_011511476.1:c.4291A>G	XP_011509778.1:p.Thr1431Ala
XR_922967.1:n.6312A>G
XM_011511470.2:c.5029A>G	XP_011509772.1:p.Thr1677Ala
XM_011511472.2:c.5029A>G	XP_011509774.1:p.Thr1677Ala
XM_024452987.1:c.4990A>G	XP_024308755.1:p.Thr1664Ala
XM_024452988.1:c.5029A>G	XP_024308756.1:p.Thr1677Ala
XM_024452989.1:c.4990A>G	XP_024308757.1:p.Thr1664Ala
XM_024452990.1:c.4330A>G	XP_024308758.1:p.Thr1444Ala
XR_002959318.1:n.5395A>G
XR_002959319.1:n.4796A>G
NM_001378120.1:c.4990A>G MANE Select	NP_001365049.1:p.Thr1664Ala
NM_018328.5:c.4291A>G	NP_060798.2:p.Thr1431Ala