Canonical Allele Identifier: CA2466570880

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031203C= , CM000685.2:g.154031203C=	GRCh38
NC_000023.10:g.153296654C= , CM000685.1:g.153296654C=	GRCh37
NC_000023.9:g.152949848C=	NCBI36
NG_007107.2:g.110925G=
NG_007107.3:g.110901G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.625G= MANE Plus Clinical	ENSP00000301948.6:p.Val209=
ENST00000453960.7:c.661G= MANE Select	ENSP00000395535.2:p.Val221=
ENST00000637917.1:c.65+193G=
ENST00000303391.10:c.625G=	ENSP00000301948.6:p.Val209=
ENST00000407218.5:c.552G=	ENSP00000384865.2:p.Arg184=
ENST00000453960.6:c.661G=	ENSP00000395535.2:p.Val221=
ENST00000619732.4:c.625G=	ENSP00000480973.1:p.Val209=
ENST00000622433.4:c.613G=	ENSP00000484470.1:p.Val205=
ENST00000628176.2:c.516G=	ENSP00000486978.1:p.Arg172=
NM_001110792.1:c.661G=	NP_001104262.1:p.Val221=
NM_001316337.1:c.346G=	NP_001303266.1:p.Val116=
NM_004992.3:c.625G=	NP_004983.1:p.Val209=
XM_005274681.3:c.625G=	XP_005274738.1:p.Val209=
XM_005274682.3:c.346G=	XP_005274739.1:p.Val116=
XM_005274683.3:c.346G=	XP_005274740.1:p.Val116=
XM_006724819.2:c.-45G=	XP_006724882.1:n.-45G=
XM_011531166.1:c.346G=	XP_011529468.1:p.Val116=
XM_006724819.3:c.-45G=	XP_006724882.1:n.-45G=
XM_011531166.2:c.346G=	XP_011529468.1:p.Val116=
XM_024452383.1:c.346G=	XP_024308151.1:p.Val116=
XM_024452384.1:c.346G=	XP_024308152.1:p.Val116=
NM_001110792.2:c.661G= MANE Select	NP_001104262.1:p.Val221=
NM_001316337.2:c.346G=	NP_001303266.1:p.Val116=
NM_001369391.2:c.346G=	NP_001356320.1:p.Val116=
NM_001369392.2:c.346G=	NP_001356321.1:p.Val116=
NM_001369393.2:c.346G=	NP_001356322.1:p.Val116=
NM_001369394.1:c.346G=	NP_001356323.1:p.Val116=
NM_001369394.2:c.346G=	NP_001356323.1:p.Val116=
NM_001386137.1:c.-45G=	NP_001373066.1:n.-45G=
NM_001386138.1:c.-45G=	NP_001373067.1:n.-45G=
NM_001386139.1:c.-45G=	NP_001373068.1:n.-45G=
NM_004992.4:c.625G= MANE Plus Clinical	NP_004983.1:p.Val209=