Canonical Allele Identifier: CA2573159387

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1685940
• ClinVar RCV Id: RCV002250107
• dbSNP Id: rs2148663473

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031223del , CM000685.2:g.154031223del	GRCh38
NC_000023.10:g.153296674del , CM000685.1:g.153296674del	GRCh37
NC_000023.9:g.152949868del	NCBI36
NG_007107.2:g.110906del
NG_007107.3:g.110882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.606del MANE Plus Clinical	ENSP00000301948.6:p.Thr203ArgfsTer7
ENST00000453960.7:c.642del MANE Select	ENSP00000395535.2:p.Thr215ArgfsTer7
ENST00000637917.1:c.65+174del
ENST00000303391.10:c.606del	ENSP00000301948.6:p.Thr203ArgfsTer7
ENST00000407218.5:c.533del	ENSP00000384865.2:p.Pro178HisfsTer?
ENST00000453960.6:c.642del	ENSP00000395535.2:p.Thr215ArgfsTer7
ENST00000619732.4:c.606del	ENSP00000480973.1:p.Thr203ArgfsTer7
ENST00000622433.4:c.594del	ENSP00000484470.1:p.Thr199ArgfsTer7
ENST00000628176.2:c.497del	ENSP00000486978.1:p.Pro166HisfsTer?
NM_001110792.1:c.642del	NP_001104262.1:p.Thr215ArgfsTer7
NM_001316337.1:c.327del	NP_001303266.1:p.Thr110ArgfsTer7
NM_004992.3:c.606del	NP_004983.1:p.Thr203ArgfsTer7
XM_005274681.3:c.606del	XP_005274738.1:p.Thr203ArgfsTer7
XM_005274682.3:c.327del	XP_005274739.1:p.Thr110ArgfsTer7
XM_005274683.3:c.327del	XP_005274740.1:p.Thr110ArgfsTer7
XM_006724819.2:c.-64del	XP_006724882.1:n.-64del
XM_011531166.1:c.327del	XP_011529468.1:p.Thr110ArgfsTer7
XM_006724819.3:c.-64del	XP_006724882.1:n.-64del
XM_011531166.2:c.327del	XP_011529468.1:p.Thr110ArgfsTer7
XM_024452383.1:c.327del	XP_024308151.1:p.Thr110ArgfsTer7
XM_024452384.1:c.327del	XP_024308152.1:p.Thr110ArgfsTer7
NM_001110792.2:c.642del MANE Select	NP_001104262.1:p.Thr215ArgfsTer7
NM_001316337.2:c.327del	NP_001303266.1:p.Thr110ArgfsTer7
NM_001369391.2:c.327del	NP_001356320.1:p.Thr110ArgfsTer7
NM_001369392.2:c.327del	NP_001356321.1:p.Thr110ArgfsTer7
NM_001369393.2:c.327del	NP_001356322.1:p.Thr110ArgfsTer7
NM_001369394.1:c.327del	NP_001356323.1:p.Thr110ArgfsTer7
NM_001369394.2:c.327del	NP_001356323.1:p.Thr110ArgfsTer7
NM_001386137.1:c.-64del	NP_001373066.1:n.-64del
NM_001386138.1:c.-64del	NP_001373067.1:n.-64del
NM_001386139.1:c.-64del	NP_001373068.1:n.-64del
NM_004992.4:c.606del MANE Plus Clinical	NP_004983.1:p.Thr203ArgfsTer7