Canonical Allele Identifier: CA2466570743

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030930C= , CM000685.2:g.154030930C=	GRCh38
NC_000023.10:g.153296381C= , CM000685.1:g.153296381C=	GRCh37
NC_000023.9:g.152949575C=	NCBI36
NG_007107.2:g.111198G=
NG_007107.3:g.111174G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.898G= MANE Plus Clinical	ENSP00000301948.6:p.Val300=
ENST00000453960.7:c.934G= MANE Select	ENSP00000395535.2:p.Val312=
ENST00000637917.1:c.72G=
ENST00000303391.10:c.898G=	ENSP00000301948.6:p.Val300=
ENST00000407218.5:c.*270G=	ENSP00000384865.2:n.*270G=
ENST00000453960.6:c.934G=	ENSP00000395535.2:p.Val312=
ENST00000619732.4:c.898G=	ENSP00000480973.1:p.Val300=
ENST00000622433.4:c.884G=	ENSP00000484470.1:p.Arg295=
ENST00000628176.2:c.*270G=	ENSP00000486978.1:n.*270G=
NM_001110792.1:c.934G=	NP_001104262.1:p.Val312=
NM_001316337.1:c.619G=	NP_001303266.1:p.Val207=
NM_004992.3:c.898G=	NP_004983.1:p.Val300=
XM_005274681.3:c.898G=	XP_005274738.1:p.Val300=
XM_005274682.3:c.619G=	XP_005274739.1:p.Val207=
XM_005274683.3:c.619G=	XP_005274740.1:p.Val207=
XM_006724819.2:c.229G=	XP_006724882.1:p.Val77=
XM_011531166.1:c.619G=	XP_011529468.1:p.Val207=
XM_006724819.3:c.229G=	XP_006724882.1:p.Val77=
XM_011531166.2:c.619G=	XP_011529468.1:p.Val207=
XM_024452383.1:c.619G=	XP_024308151.1:p.Val207=
XM_024452384.1:c.619G=	XP_024308152.1:p.Val207=
NM_001110792.2:c.934G= MANE Select	NP_001104262.1:p.Val312=
NM_001316337.2:c.619G=	NP_001303266.1:p.Val207=
NM_001369391.2:c.619G=	NP_001356320.1:p.Val207=
NM_001369392.2:c.619G=	NP_001356321.1:p.Val207=
NM_001369393.2:c.619G=	NP_001356322.1:p.Val207=
NM_001369394.1:c.619G=	NP_001356323.1:p.Val207=
NM_001369394.2:c.619G=	NP_001356323.1:p.Val207=
NM_001386137.1:c.229G=	NP_001373066.1:p.Val77=
NM_001386138.1:c.229G=	NP_001373067.1:p.Val77=
NM_001386139.1:c.229G=	NP_001373068.1:p.Val77=
NM_004992.4:c.898G= MANE Plus Clinical	NP_004983.1:p.Val300=