Canonical Allele Identifier: CA348859048

Gene: MBD5

Linked Data

• dbSNP Id: rs1429452677
• gnomAD v2: 2-149260043-G-C
• gnomAD v4: 2-148502474-G-C
• MyVariant Identifiers: chr2:g.149260043G>C (hg19) ; chr2:g.148502474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502474G>C , CM000664.2:g.148502474G>C	GRCh38
NC_000002.11:g.149260043G>C , CM000664.1:g.149260043G>C	GRCh37
NC_000002.10:g.148976513G>C	NCBI36
NG_017003.1:g.486464G>C
NG_017003.2:g.486464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2931G>C
ENST00000637835.1:n.32G>C
ENST00000638043.2:c.4341G>C	ENSP00000490728.2:p.Leu1447Phe
ENST00000642680.2:c.5001G>C MANE Select	ENSP00000493871.2:p.Leu1667Phe
ENST00000404807.5:c.5001G>C	ENSP00000384672.1:p.Leu1667Phe
ENST00000407073.5:c.4302G>C	ENSP00000386049.1:p.Leu1434Phe
ENST00000416015.2:c.3011G>C
ENST00000496893.3:n.2083G>C
ENST00000628572.1:c.541G>C	ENSP00000486209.1:n.541G>C
ENST00000629878.2:c.3208G>C	ENSP00000487089.1:p.Gly1070Arg
ENST00000630352.1:c.162-10396G>C
NM_018328.4:c.4302G>C	NP_060798.2:p.Leu1434Phe
XM_005263711.2:c.5001G>C	XP_005263768.1:p.Leu1667Phe
XM_011511470.1:c.5040G>C	XP_011509772.1:p.Leu1680Phe
XM_011511471.1:c.5040G>C	XP_011509773.1:p.Leu1680Phe
XM_011511472.1:c.5040G>C	XP_011509774.1:p.Leu1680Phe
XM_011511473.1:c.5040G>C	XP_011509775.1:p.Leu1680Phe
XM_011511474.1:c.5001G>C	XP_011509776.1:p.Leu1667Phe
XM_011511475.1:c.4341G>C	XP_011509777.1:p.Leu1447Phe
XM_011511476.1:c.4302G>C	XP_011509778.1:p.Leu1434Phe
XR_922967.1:n.6323G>C
XM_011511470.2:c.5040G>C	XP_011509772.1:p.Leu1680Phe
XM_011511472.2:c.5040G>C	XP_011509774.1:p.Leu1680Phe
XM_024452987.1:c.5001G>C	XP_024308755.1:p.Leu1667Phe
XM_024452988.1:c.5040G>C	XP_024308756.1:p.Leu1680Phe
XM_024452989.1:c.5001G>C	XP_024308757.1:p.Leu1667Phe
XM_024452990.1:c.4341G>C	XP_024308758.1:p.Leu1447Phe
XR_002959318.1:n.5406G>C
XR_002959319.1:n.4807G>C
NM_001378120.1:c.5001G>C MANE Select	NP_001365049.1:p.Leu1667Phe
NM_018328.5:c.4302G>C	NP_060798.2:p.Leu1434Phe