Canonical Allele Identifier: CA16043197
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372650
ClinVar RCV Id: RCV000413833
dbSNP Id: rs1057517905

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154092190C>T , CM000685.2:g.154092190C>T GRCh38
NC_000023.10:g.153357648C>T , CM000685.1:g.153357648C>T GRCh37
NC_000023.9:g.153010842C>T NCBI36
NG_007107.2:g.49931G>A
NG_007107.3:g.49914G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700484.1:n.22+5414G>A
ENST00000303391.11:c.20G>A MANE Plus Clinical ENSP00000301948.6:p.Gly7Glu
ENST00000453960.7:c.62+5414G>A MANE Select ENSP00000395535.2:n.62+5414G>A
ENST00000611468.2:n.118G>A
ENST00000630151.2:c.20G>A ENSP00000486089.1:p.Gly7Glu
ENST00000637533.1:n.57+4779G>A
ENST00000637791.1:n.72G>A
ENST00000674996.1:c.20G>A ENSP00000502832.1:p.Gly7Glu
ENST00000675526.1:c.20G>A ENSP00000501710.1:p.Gly7Glu
ENST00000675841.1:n.118G>A
ENST00000676382.1:n.22+5414G>A
ENST00000303391.10:c.20G>A ENSP00000301948.6:p.Gly7Glu
ENST00000369957.5:c.20G>A ENSP00000358973.4:p.Gly7Glu
ENST00000407218.5:c.62+5414G>A ENSP00000384865.2:n.62+5414G>A
ENST00000415944.3:c.20G>A ENSP00000416267.1:p.Gly7Glu
ENST00000453960.6:c.62+5414G>A ENSP00000395535.2:n.62+5414G>A
ENST00000496908.5:n.157+4623G>A
ENST00000611468.1:c.8G>A ENSP00000479736.1:p.Gly3Glu
ENST00000619732.4:c.20G>A ENSP00000480973.1:p.Gly7Glu
ENST00000622433.4:c.8G>A ENSP00000484470.1:p.Gly3Glu
ENST00000627864.1:n.195G>A
ENST00000628176.2:c.20G>A ENSP00000486978.1:p.Gly7Glu
ENST00000630151.1:c.20G>A ENSP00000486089.1:p.Gly7Glu
ENST00000631210.1:n.305+12591G>A
NM_001110792.1:c.62+5414G>A NP_001104262.1:n.62+5414G>A
NM_001316337.1:c.-428G>A NP_001303266.1:n.-428G>A
NM_004992.3:c.20G>A NP_004983.1:p.Gly7Glu
XM_005274681.3:c.20G>A XP_005274738.1:p.Gly7Glu
XM_005274682.3:c.-372G>A XP_005274739.1:n.-372G>A
XM_024452383.1:c.-798G>A XP_024308151.1:n.-798G>A
XM_024452384.1:c.-372G>A XP_024308152.1:n.-372G>A
NM_001110792.2:c.62+5414G>A MANE Select NP_001104262.1:n.62+5414G>A
NM_001316337.2:c.-428G>A NP_001303266.1:n.-428G>A
NM_001369391.2:c.-723G>A NP_001356320.1:n.-723G>A
NM_001369392.2:c.-372G>A NP_001356321.1:n.-372G>A
NM_001369393.2:c.-366+5414G>A NP_001356322.1:n.-366+5414G>A
NM_001369394.1:c.-254+4623G>A NP_001356323.1:n.-254+4623G>A
NM_001369394.2:c.-254+4623G>A NP_001356323.1:n.-254+4623G>A
NM_001386137.1:c.-653G>A NP_001373066.1:n.-653G>A
NM_001386138.1:c.-541G>A NP_001373067.1:n.-541G>A
NM_001386139.1:c.-535+5414G>A NP_001373068.1:n.-535+5414G>A
NM_004992.4:c.20G>A MANE Plus Clinical NP_004983.1:p.Gly7Glu