Canonical Allele Identifier: CA270274
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143453
ClinVar RCV Id: RCV000132980
dbSNP Id: rs61754430

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032458dup , CM000685.2:g.154032458dup GRCh38
NC_000023.10:g.153297909dup , CM000685.1:g.153297909dup GRCh37
NC_000023.9:g.152951103dup NCBI36
NG_007107.2:g.109670dup
NG_007107.3:g.109646dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.126dup MANE Plus Clinical ENSP00000301948.6:p.His43AlafsTer2
ENST00000453960.7:c.162dup MANE Select ENSP00000395535.2:p.His55AlafsTer2
ENST00000303391.10:c.126dup ENSP00000301948.6:p.His43AlafsTer2
ENST00000369957.5:c.*180dup ENSP00000358973.4:n.*180dup
ENST00000407218.5:c.162dup ENSP00000384865.2:p.His55AlafsTer2
ENST00000415944.3:c.126dup ENSP00000416267.1:p.His43AlafsTer2
ENST00000453960.6:c.162dup ENSP00000395535.2:p.His55AlafsTer2
ENST00000460227.4:n.1275dup
ENST00000463644.5:n.1065dup
ENST00000481807.3:n.412dup
ENST00000486506.5:n.2474dup
ENST00000488293.4:n.1175dup
ENST00000496908.5:n.257dup
ENST00000611468.1:c.114dup ENSP00000479736.1:p.His39AlafsTer2
ENST00000619732.4:c.126dup ENSP00000480973.1:p.His43AlafsTer2
ENST00000622433.4:c.114dup ENSP00000484470.1:p.His39AlafsTer2
ENST00000628176.2:c.126dup ENSP00000486978.1:p.His43AlafsTer2
ENST00000631210.1:n.405dup
NM_001110792.1:c.162dup NP_001104262.1:p.His55AlafsTer2
NM_001316337.1:c.-154dup NP_001303266.1:n.-154dup
NM_004992.3:c.126dup NP_004983.1:p.His43AlafsTer2
XM_005274681.3:c.126dup XP_005274738.1:p.His43AlafsTer2
XM_005274682.3:c.-154dup XP_005274739.1:n.-154dup
XM_005274683.3:c.-154dup XP_005274740.1:n.-154dup
XM_011531166.1:c.-154dup XP_011529468.1:n.-154dup
XM_006724819.3:c.-435dup XP_006724882.1:n.-435dup
XM_011531166.2:c.-154dup XP_011529468.1:n.-154dup
XM_024452383.1:c.-154dup XP_024308151.1:n.-154dup
XM_024452384.1:c.-154dup XP_024308152.1:n.-154dup
NM_001110792.2:c.162dup MANE Select NP_001104262.1:p.His55AlafsTer2
NM_001316337.2:c.-154dup NP_001303266.1:n.-154dup
NM_001369391.2:c.-154dup NP_001356320.1:n.-154dup
NM_001369392.2:c.-154dup NP_001356321.1:n.-154dup
NM_001369393.2:c.-154dup NP_001356322.1:n.-154dup
NM_001369394.1:c.-154dup NP_001356323.1:n.-154dup
NM_001369394.2:c.-154dup NP_001356323.1:n.-154dup
NM_001386137.1:c.-435dup NP_001373066.1:n.-435dup
NM_001386138.1:c.-435dup NP_001373067.1:n.-435dup
NM_001386139.1:c.-435dup NP_001373068.1:n.-435dup
NM_004992.4:c.126dup MANE Plus Clinical NP_004983.1:p.His43AlafsTer2