Canonical Allele Identifier: CA211250
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11809
dbSNP Id: rs28934904

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031431G>A , CM000685.2:g.154031431G>A GRCh38
NC_000023.10:g.153296882G>A , CM000685.1:g.153296882G>A GRCh37
NC_000023.9:g.152950076G>A NCBI36
NG_007107.2:g.110697C>T
NG_007107.3:g.110673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.397C>T MANE Plus Clinical ENSP00000301948.6:p.Arg133Cys
ENST00000453960.7:c.433C>T MANE Select ENSP00000395535.2:p.Arg145Cys
ENST00000637917.1:c.30C>T
ENST00000303391.10:c.397C>T ENSP00000301948.6:p.Arg133Cys
ENST00000369957.5:c.*451C>T ENSP00000358973.4:n.*451C>T
ENST00000407218.5:c.433C>T ENSP00000384865.2:p.Arg145Cys
ENST00000453960.6:c.433C>T ENSP00000395535.2:p.Arg145Cys
ENST00000486506.5:n.2745C>T
ENST00000611468.1:c.385C>T ENSP00000479736.1:p.Arg129Cys
ENST00000619732.4:c.397C>T ENSP00000480973.1:p.Arg133Cys
ENST00000622433.4:c.385C>T ENSP00000484470.1:p.Arg129Cys
ENST00000628176.2:c.397C>T ENSP00000486978.1:p.Arg133Cys
NM_001110792.1:c.433C>T NP_001104262.1:p.Arg145Cys
NM_001316337.1:c.118C>T NP_001303266.1:p.Arg40Cys
NM_004992.3:c.397C>T NP_004983.1:p.Arg133Cys
XM_005274681.3:c.397C>T XP_005274738.1:p.Arg133Cys
XM_005274682.3:c.118C>T XP_005274739.1:p.Arg40Cys
XM_005274683.3:c.118C>T XP_005274740.1:p.Arg40Cys
XM_006724819.2:c.-164C>T XP_006724882.1:n.-164C>T
XM_011531166.1:c.118C>T XP_011529468.1:p.Arg40Cys
XM_006724819.3:c.-164C>T XP_006724882.1:n.-164C>T
XM_011531166.2:c.118C>T XP_011529468.1:p.Arg40Cys
XM_024452383.1:c.118C>T XP_024308151.1:p.Arg40Cys
XM_024452384.1:c.118C>T XP_024308152.1:p.Arg40Cys
NM_001110792.2:c.433C>T MANE Select NP_001104262.1:p.Arg145Cys
NM_001316337.2:c.118C>T NP_001303266.1:p.Arg40Cys
NM_001369391.2:c.118C>T NP_001356320.1:p.Arg40Cys
NM_001369392.2:c.118C>T NP_001356321.1:p.Arg40Cys
NM_001369393.2:c.118C>T NP_001356322.1:p.Arg40Cys
NM_001369394.1:c.118C>T NP_001356323.1:p.Arg40Cys
NM_001369394.2:c.118C>T NP_001356323.1:p.Arg40Cys
NM_001386137.1:c.-164C>T NP_001373066.1:n.-164C>T
NM_001386138.1:c.-164C>T NP_001373067.1:n.-164C>T
NM_001386139.1:c.-164C>T NP_001373068.1:n.-164C>T
NM_004992.4:c.397C>T MANE Plus Clinical NP_004983.1:p.Arg133Cys