Canonical Allele Identifier: CA2466594805

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097661G= , CM000685.2:g.154097661G=	GRCh38
NC_000023.10:g.153363118G= , CM000685.1:g.153363118G=	GRCh37
NC_000023.9:g.153016312G=	NCBI36
NG_007107.2:g.44461C=
NG_007107.3:g.44443C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001110792.2:c.5C= MANE Select	NP_001104262.1:p.Ala2=
ENST00000453960.7:c.5C= MANE Select	ENSP00000395535.2:p.Ala2=
NM_004992.4:c.-156C= MANE Plus Clinical	NP_004983.1:n.-156C=
ENST00000303391.11:c.-156C= MANE Plus Clinical	ENSP00000301948.6:n.-156C=
NM_001110792.1:c.5C=	NP_001104262.1:p.Ala2=
NM_001316337.1:c.-603C=	NP_001303266.1:n.-603C=
NM_001316337.2:c.-603C=	NP_001303266.1:n.-603C=
NM_001369391.2:c.-898C=	NP_001356320.1:n.-898C=
NM_001369392.2:c.-547C=	NP_001356321.1:n.-547C=
NM_001369393.2:c.-423C=	NP_001356322.1:n.-423C=
NM_001386137.1:c.-828C=	NP_001373066.1:n.-828C=
NM_001386138.1:c.-716C=	NP_001373067.1:n.-716C=
NM_001386139.1:c.-592C=	NP_001373068.1:n.-592C=
NM_004992.3:c.-156C=	NP_004983.1:n.-156C=
ENST00000303391.10:c.-156C=	ENSP00000301948.6:n.-156C=
ENST00000369957.5:c.-156C=	ENSP00000358973.4:n.-156C=
ENST00000407218.5:c.5C=	ENSP00000384865.2:p.Ala2=
ENST00000453960.6:c.5C=	ENSP00000395535.2:p.Ala2=
ENST00000619732.4:c.-156C=	ENSP00000480973.1:n.-156C=
ENST00000627864.1:n.20C=
ENST00000628176.2:c.-156C=	ENSP00000486978.1:n.-156C=
ENST00000631210.1:n.305+7120C=
XM_005274682.3:c.-547C=	XP_005274739.1:n.-547C=