Canonical Allele Identifier: CA233003

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143684
• ClinVar RCV Id: RCV000133226 ; RCV000169937
• dbSNP Id: rs61749751
• MyVariant Identifiers: chrX:g.153296526_153296527dupGG (hg19) ; chrX:g.153296525_153296526insGG (hg19) ; chrX:g.154031075_154031076dupGG (hg38) ; chrX:g.154031074_154031075insGG (hg38)
• PubMed: PMID:11055898

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031077_154031078dup , CM000685.2:g.154031077_154031078dup	GRCh38
NC_000023.10:g.153296528_153296529dup , CM000685.1:g.153296528_153296529dup	GRCh37
NC_000023.9:g.152949722_152949723dup	NCBI36
NG_007107.2:g.111052_111053dup
NG_007107.3:g.111028_111029dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.752_753dup MANE Plus Clinical	ENSP00000301948.6:p.Gly252ProfsTer?
ENST00000453960.7:c.788_789dup MANE Select	ENSP00000395535.2:p.Gly264ProfsTer?
ENST00000637917.1:c.66-140_66-139dup
ENST00000303391.10:c.752_753dup	ENSP00000301948.6:p.Gly252ProfsTer?
ENST00000407218.5:c.*124_*125dup	ENSP00000384865.2:n.*124_*125dup
ENST00000453960.6:c.788_789dup	ENSP00000395535.2:p.Gly264ProfsTer?
ENST00000619732.4:c.752_753dup	ENSP00000480973.1:p.Gly252ProfsTer?
ENST00000622433.4:c.740_741dup	ENSP00000484470.1:p.Gly248ProfsTer?
ENST00000628176.2:c.*124_*125dup	ENSP00000486978.1:n.*124_*125dup
NM_001110792.1:c.788_789dup	NP_001104262.1:p.Gly264ProfsTer?
NM_001316337.1:c.473_474dup	NP_001303266.1:p.Gly159ProfsTer?
NM_004992.3:c.752_753dup	NP_004983.1:p.Gly252ProfsTer?
XM_005274681.3:c.752_753dup	XP_005274738.1:p.Gly252ProfsTer?
XM_005274682.3:c.473_474dup	XP_005274739.1:p.Gly159ProfsTer?
XM_005274683.3:c.473_474dup	XP_005274740.1:p.Gly159ProfsTer?
XM_006724819.2:c.83_84dup	XP_006724882.1:p.Gly29ProfsTer?
XM_011531166.1:c.473_474dup	XP_011529468.1:p.Gly159ProfsTer?
XM_006724819.3:c.83_84dup	XP_006724882.1:p.Gly29ProfsTer?
XM_011531166.2:c.473_474dup	XP_011529468.1:p.Gly159ProfsTer?
XM_024452383.1:c.473_474dup	XP_024308151.1:p.Gly159ProfsTer?
XM_024452384.1:c.473_474dup	XP_024308152.1:p.Gly159ProfsTer?
NM_001110792.2:c.788_789dup MANE Select	NP_001104262.1:p.Gly264ProfsTer?
NM_001316337.2:c.473_474dup	NP_001303266.1:p.Gly159ProfsTer?
NM_001369391.2:c.473_474dup	NP_001356320.1:p.Gly159ProfsTer?
NM_001369392.2:c.473_474dup	NP_001356321.1:p.Gly159ProfsTer?
NM_001369393.2:c.473_474dup	NP_001356322.1:p.Gly159ProfsTer?
NM_001369394.1:c.473_474dup	NP_001356323.1:p.Gly159ProfsTer?
NM_001369394.2:c.473_474dup	NP_001356323.1:p.Gly159ProfsTer?
NM_001386137.1:c.83_84dup	NP_001373066.1:p.Gly29ProfsTer?
NM_001386138.1:c.83_84dup	NP_001373067.1:p.Gly29ProfsTer?
NM_001386139.1:c.83_84dup	NP_001373068.1:p.Gly29ProfsTer?
NM_004992.4:c.752_753dup MANE Plus Clinical	NP_004983.1:p.Gly252ProfsTer?