Canonical Allele Identifier: CA233141
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156045
ClinVar RCV Id: RCV000144092 RCV000170166
dbSNP Id: rs267608409
MyVariant Identifiers: chrX:g.153357640A>T (hg19) chrX:g.154092182A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154092182A>T , CM000685.2:g.154092182A>T GRCh38
NC_000023.10:g.153357640A>T , CM000685.1:g.153357640A>T GRCh37
NC_000023.9:g.153010834A>T NCBI36
NG_007107.2:g.49939T>A
NG_007107.3:g.49922T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700484.1:n.22+5422T>A
ENST00000303391.11:c.26+2T>A MANE Plus Clinical ENSP00000301948.6:n.26+2T>A
ENST00000453960.7:c.62+5422T>A MANE Select ENSP00000395535.2:n.62+5422T>A
ENST00000611468.2:n.124+2T>A
ENST00000630151.2:c.26+2T>A ENSP00000486089.1:n.26+2T>A
ENST00000637533.1:n.57+4787T>A
ENST00000637791.1:n.78+2T>A
ENST00000674996.1:c.26+2T>A ENSP00000502832.1:n.26+2T>A
ENST00000675526.1:c.26+2T>A ENSP00000501710.1:n.26+2T>A
ENST00000675841.1:n.124+2T>A
ENST00000676382.1:n.22+5422T>A
ENST00000303391.10:c.26+2T>A ENSP00000301948.6:n.26+2T>A
ENST00000369957.5:c.26+2T>A ENSP00000358973.4:n.26+2T>A
ENST00000407218.5:c.62+5422T>A ENSP00000384865.2:n.62+5422T>A
ENST00000415944.3:c.26+2T>A ENSP00000416267.1:n.26+2T>A
ENST00000453960.6:c.62+5422T>A ENSP00000395535.2:n.62+5422T>A
ENST00000496908.5:n.157+4631T>A
ENST00000611468.1:c.14+2T>A ENSP00000479736.1:n.14+2T>A
ENST00000619732.4:c.26+2T>A ENSP00000480973.1:n.26+2T>A
ENST00000622433.4:c.14+2T>A ENSP00000484470.1:n.14+2T>A
ENST00000627864.1:n.201+2T>A
ENST00000628176.2:c.26+2T>A ENSP00000486978.1:n.26+2T>A
ENST00000630151.1:c.26+2T>A ENSP00000486089.1:n.26+2T>A
ENST00000631210.1:n.305+12599T>A
NM_001110792.1:c.62+5422T>A NP_001104262.1:n.62+5422T>A
NM_001316337.1:c.-422+2T>A NP_001303266.1:n.-422+2T>A
NM_004992.3:c.26+2T>A NP_004983.1:n.26+2T>A
XM_005274681.3:c.26+2T>A XP_005274738.1:n.26+2T>A
XM_005274682.3:c.-366+2T>A XP_005274739.1:n.-366+2T>A
XM_024452383.1:c.-792+2T>A XP_024308151.1:n.-792+2T>A
XM_024452384.1:c.-366+2T>A XP_024308152.1:n.-366+2T>A
NM_001110792.2:c.62+5422T>A MANE Select NP_001104262.1:n.62+5422T>A
NM_001316337.2:c.-422+2T>A NP_001303266.1:n.-422+2T>A
NM_001369391.2:c.-717+2T>A NP_001356320.1:n.-717+2T>A
NM_001369392.2:c.-366+2T>A NP_001356321.1:n.-366+2T>A
NM_001369393.2:c.-366+5422T>A NP_001356322.1:n.-366+5422T>A
NM_001369394.1:c.-254+4631T>A NP_001356323.1:n.-254+4631T>A
NM_001369394.2:c.-254+4631T>A NP_001356323.1:n.-254+4631T>A
NM_001386137.1:c.-647+2T>A NP_001373066.1:n.-647+2T>A
NM_001386138.1:c.-535+2T>A NP_001373067.1:n.-535+2T>A
NM_001386139.1:c.-535+5422T>A NP_001373068.1:n.-535+5422T>A
NM_004992.4:c.26+2T>A MANE Plus Clinical NP_004983.1:n.26+2T>A
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