Canonical Allele Identifier: CA2466594764
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097612C= , CM000685.2:g.154097612C= GRCh38
NC_000023.10:g.153363069C= , CM000685.1:g.153363069C= GRCh37
NC_000023.9:g.153016263C= NCBI36
NG_007107.2:g.44510G=
NG_007107.3:g.44492G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700484.1:n.14G=
ENST00000303391.11:c.-107G= MANE Plus Clinical ENSP00000301948.6:n.-107G=
ENST00000453960.7:c.54G= MANE Select ENSP00000395535.2:p.Glu18=
ENST00000676382.1:n.14G=
ENST00000303391.10:c.-107G= ENSP00000301948.6:n.-107G=
ENST00000369957.5:c.-107G= ENSP00000358973.4:n.-107G=
ENST00000407218.5:c.54G= ENSP00000384865.2:p.Glu18=
ENST00000453960.6:c.54G= ENSP00000395535.2:p.Glu18=
ENST00000619732.4:c.-107G= ENSP00000480973.1:n.-107G=
ENST00000627864.1:n.69G=
ENST00000628176.2:c.-107G= ENSP00000486978.1:n.-107G=
ENST00000631210.1:n.305+7169G=
NM_001110792.1:c.54G= NP_001104262.1:p.Glu18=
NM_001316337.1:c.-554G= NP_001303266.1:n.-554G=
NM_004992.3:c.-107G= NP_004983.1:n.-107G=
XM_005274682.3:c.-498G= XP_005274739.1:n.-498G=
NM_001110792.2:c.54G= MANE Select NP_001104262.1:p.Glu18=
NM_001316337.2:c.-554G= NP_001303266.1:n.-554G=
NM_001369391.2:c.-849G= NP_001356320.1:n.-849G=
NM_001369392.2:c.-498G= NP_001356321.1:n.-498G=
NM_001369393.2:c.-374G= NP_001356322.1:n.-374G=
NM_001386137.1:c.-779G= NP_001373066.1:n.-779G=
NM_001386138.1:c.-667G= NP_001373067.1:n.-667G=
NM_001386139.1:c.-543G= NP_001373068.1:n.-543G=
NM_004992.4:c.-107G= MANE Plus Clinical NP_004983.1:n.-107G=