Canonical Allele Identifier: CA2466571563
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032312C= , CM000685.2:g.154032312C= GRCh38
NC_000023.10:g.153297763C= , CM000685.1:g.153297763C= GRCh37
NC_000023.9:g.152950957C= NCBI36
NG_007107.2:g.109816G=
NG_007107.3:g.109792G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.272G= MANE Plus Clinical ENSP00000301948.6:p.Arg91=
ENST00000453960.7:c.308G= MANE Select ENSP00000395535.2:p.Arg103=
ENST00000303391.10:c.272G= ENSP00000301948.6:p.Arg91=
ENST00000369957.5:c.*326G= ENSP00000358973.4:n.*326G=
ENST00000407218.5:c.308G= ENSP00000384865.2:p.Arg103=
ENST00000453960.6:c.308G= ENSP00000395535.2:p.Arg103=
ENST00000486506.5:n.2620G=
ENST00000611468.1:c.260G= ENSP00000479736.1:p.Arg87=
ENST00000619732.4:c.272G= ENSP00000480973.1:p.Arg91=
ENST00000622433.4:c.260G= ENSP00000484470.1:p.Arg87=
ENST00000628176.2:c.272G= ENSP00000486978.1:p.Arg91=
NM_001110792.1:c.308G= NP_001104262.1:p.Arg103=
NM_001316337.1:c.-8G= NP_001303266.1:n.-8G=
NM_004992.3:c.272G= NP_004983.1:p.Arg91=
XM_005274681.3:c.272G= XP_005274738.1:p.Arg91=
XM_005274682.3:c.-8G= XP_005274739.1:n.-8G=
XM_005274683.3:c.-8G= XP_005274740.1:n.-8G=
XM_011531166.1:c.-8G= XP_011529468.1:n.-8G=
XM_006724819.3:c.-289G= XP_006724882.1:n.-289G=
XM_011531166.2:c.-8G= XP_011529468.1:n.-8G=
XM_024452383.1:c.-8G= XP_024308151.1:n.-8G=
XM_024452384.1:c.-8G= XP_024308152.1:n.-8G=
NM_001110792.2:c.308G= MANE Select NP_001104262.1:p.Arg103=
NM_001316337.2:c.-8G= NP_001303266.1:n.-8G=
NM_001369391.2:c.-8G= NP_001356320.1:n.-8G=
NM_001369392.2:c.-8G= NP_001356321.1:n.-8G=
NM_001369393.2:c.-8G= NP_001356322.1:n.-8G=
NM_001369394.1:c.-8G= NP_001356323.1:n.-8G=
NM_001369394.2:c.-8G= NP_001356323.1:n.-8G=
NM_001386137.1:c.-289G= NP_001373066.1:n.-289G=
NM_001386138.1:c.-289G= NP_001373067.1:n.-289G=
NM_001386139.1:c.-289G= NP_001373068.1:n.-289G=
NM_004992.4:c.272G= MANE Plus Clinical NP_004983.1:p.Arg91=