Canonical Allele Identifier: CA2466594610

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097376G= , CM000685.2:g.154097376G=	GRCh38
NC_000023.10:g.153362833G= , CM000685.1:g.153362833G=	GRCh37
NC_000023.9:g.153016027G=	NCBI36
NG_007107.2:g.44746C=
NG_007107.3:g.44728C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+228C=
ENST00000303391.11:c.-99+228C= MANE Plus Clinical	ENSP00000301948.6:n.-99+228C=
ENST00000453960.7:c.62+228C= MANE Select	ENSP00000395535.2:n.62+228C=
ENST00000676382.1:n.22+228C=
ENST00000303391.10:c.-99+228C=	ENSP00000301948.6:n.-99+228C=
ENST00000369957.5:c.-99+228C=	ENSP00000358973.4:n.-99+228C=
ENST00000407218.5:c.62+228C=	ENSP00000384865.2:n.62+228C=
ENST00000453960.6:c.62+228C=	ENSP00000395535.2:n.62+228C=
ENST00000619732.4:c.-99+228C=	ENSP00000480973.1:n.-99+228C=
ENST00000627864.1:n.77+228C=
ENST00000628176.2:c.-99+228C=	ENSP00000486978.1:n.-99+228C=
ENST00000629277.1:n.148C=
ENST00000631210.1:n.305+7405C=
NM_001110792.1:c.62+228C=	NP_001104262.1:n.62+228C=
NM_001316337.1:c.-546+228C=	NP_001303266.1:n.-546+228C=
NM_004992.3:c.-99+228C=	NP_004983.1:n.-99+228C=
XM_005274682.3:c.-490+228C=	XP_005274739.1:n.-490+228C=
NM_001110792.2:c.62+228C= MANE Select	NP_001104262.1:n.62+228C=
NM_001316337.2:c.-546+228C=	NP_001303266.1:n.-546+228C=
NM_001369391.2:c.-841+228C=	NP_001356320.1:n.-841+228C=
NM_001369392.2:c.-490+228C=	NP_001356321.1:n.-490+228C=
NM_001369393.2:c.-366+228C=	NP_001356322.1:n.-366+228C=
NM_001386137.1:c.-771+228C=	NP_001373066.1:n.-771+228C=
NM_001386138.1:c.-659+228C=	NP_001373067.1:n.-659+228C=
NM_001386139.1:c.-535+228C=	NP_001373068.1:n.-535+228C=
NM_004992.4:c.-99+228C= MANE Plus Clinical	NP_004983.1:n.-99+228C=