Canonical Allele Identifier: CA2499226478

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1076185
• ClinVar RCV Id: RCV001390003
• dbSNP Id: rs2148666876

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032389del , CM000685.2:g.154032389del	GRCh38
NC_000023.10:g.153297840del , CM000685.1:g.153297840del	GRCh37
NC_000023.9:g.152951034del	NCBI36
NG_007107.2:g.109739del
NG_007107.3:g.109715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.195del MANE Plus Clinical	ENSP00000301948.6:p.Glu66LysfsTer?
ENST00000453960.7:c.231del MANE Select	ENSP00000395535.2:p.Glu78LysfsTer?
ENST00000303391.10:c.195del	ENSP00000301948.6:p.Glu66LysfsTer?
ENST00000369957.5:c.*249del	ENSP00000358973.4:n.*249del
ENST00000407218.5:c.231del	ENSP00000384865.2:p.Glu78LysfsTer?
ENST00000453960.6:c.231del	ENSP00000395535.2:p.Glu78LysfsTer?
ENST00000486506.5:n.2543del
ENST00000496908.5:n.326del
ENST00000611468.1:c.183del	ENSP00000479736.1:p.Glu62LysfsTer?
ENST00000619732.4:c.195del	ENSP00000480973.1:p.Glu66LysfsTer?
ENST00000622433.4:c.183del	ENSP00000484470.1:p.Glu62LysfsTer?
ENST00000628176.2:c.195del	ENSP00000486978.1:p.Glu66LysfsTer?
ENST00000631210.1:n.474del
NM_001110792.1:c.231del	NP_001104262.1:p.Glu78LysfsTer?
NM_001316337.1:c.-85del	NP_001303266.1:n.-85del
NM_004992.3:c.195del	NP_004983.1:p.Glu66LysfsTer?
XM_005274681.3:c.195del	XP_005274738.1:p.Glu66LysfsTer?
XM_005274682.3:c.-85del	XP_005274739.1:n.-85del
XM_005274683.3:c.-85del	XP_005274740.1:n.-85del
XM_011531166.1:c.-85del	XP_011529468.1:n.-85del
XM_006724819.3:c.-366del	XP_006724882.1:n.-366del
XM_011531166.2:c.-85del	XP_011529468.1:n.-85del
XM_024452383.1:c.-85del	XP_024308151.1:n.-85del
XM_024452384.1:c.-85del	XP_024308152.1:n.-85del
NM_001110792.2:c.231del MANE Select	NP_001104262.1:p.Glu78LysfsTer?
NM_001316337.2:c.-85del	NP_001303266.1:n.-85del
NM_001369391.2:c.-85del	NP_001356320.1:n.-85del
NM_001369392.2:c.-85del	NP_001356321.1:n.-85del
NM_001369393.2:c.-85del	NP_001356322.1:n.-85del
NM_001369394.1:c.-85del	NP_001356323.1:n.-85del
NM_001369394.2:c.-85del	NP_001356323.1:n.-85del
NM_001386137.1:c.-366del	NP_001373066.1:n.-366del
NM_001386138.1:c.-366del	NP_001373067.1:n.-366del
NM_001386139.1:c.-366del	NP_001373068.1:n.-366del
NM_004992.4:c.195del MANE Plus Clinical	NP_004983.1:p.Glu66LysfsTer?