Canonical Allele Identifier: CA2499226476

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1071811
• ClinVar RCV Id: RCV001384353
• dbSNP Id: rs2148663296

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031190dup , CM000685.2:g.154031190dup	GRCh38
NC_000023.10:g.153296641dup , CM000685.1:g.153296641dup	GRCh37
NC_000023.9:g.152949835dup	NCBI36
NG_007107.2:g.110938dup
NG_007107.3:g.110914dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.638dup MANE Plus Clinical	ENSP00000301948.6:p.Glu214GlyfsTer22
ENST00000453960.7:c.674dup MANE Select	ENSP00000395535.2:p.Glu226GlyfsTer22
ENST00000637917.1:c.65+206dup
ENST00000303391.10:c.638dup	ENSP00000301948.6:p.Glu214GlyfsTer22
ENST00000407218.5:c.*10dup	ENSP00000384865.2:n.*10dup
ENST00000453960.6:c.674dup	ENSP00000395535.2:p.Glu226GlyfsTer22
ENST00000619732.4:c.638dup	ENSP00000480973.1:p.Glu214GlyfsTer22
ENST00000622433.4:c.626dup	ENSP00000484470.1:p.Glu210GlyfsTer22
ENST00000628176.2:c.*10dup	ENSP00000486978.1:n.*10dup
NM_001110792.1:c.674dup	NP_001104262.1:p.Glu226GlyfsTer22
NM_001316337.1:c.359dup	NP_001303266.1:p.Glu121GlyfsTer22
NM_004992.3:c.638dup	NP_004983.1:p.Glu214GlyfsTer22
XM_005274681.3:c.638dup	XP_005274738.1:p.Glu214GlyfsTer22
XM_005274682.3:c.359dup	XP_005274739.1:p.Glu121GlyfsTer22
XM_005274683.3:c.359dup	XP_005274740.1:p.Glu121GlyfsTer22
XM_006724819.2:c.-32dup	XP_006724882.1:n.-32dup
XM_011531166.1:c.359dup	XP_011529468.1:p.Glu121GlyfsTer22
XM_006724819.3:c.-32dup	XP_006724882.1:n.-32dup
XM_011531166.2:c.359dup	XP_011529468.1:p.Glu121GlyfsTer22
XM_024452383.1:c.359dup	XP_024308151.1:p.Glu121GlyfsTer22
XM_024452384.1:c.359dup	XP_024308152.1:p.Glu121GlyfsTer22
NM_001110792.2:c.674dup MANE Select	NP_001104262.1:p.Glu226GlyfsTer22
NM_001316337.2:c.359dup	NP_001303266.1:p.Glu121GlyfsTer22
NM_001369391.2:c.359dup	NP_001356320.1:p.Glu121GlyfsTer22
NM_001369392.2:c.359dup	NP_001356321.1:p.Glu121GlyfsTer22
NM_001369393.2:c.359dup	NP_001356322.1:p.Glu121GlyfsTer22
NM_001369394.1:c.359dup	NP_001356323.1:p.Glu121GlyfsTer22
NM_001369394.2:c.359dup	NP_001356323.1:p.Glu121GlyfsTer22
NM_001386137.1:c.-32dup	NP_001373066.1:n.-32dup
NM_001386138.1:c.-32dup	NP_001373067.1:n.-32dup
NM_001386139.1:c.-32dup	NP_001373068.1:n.-32dup
NM_004992.4:c.638dup MANE Plus Clinical	NP_004983.1:p.Glu214GlyfsTer22