Canonical Allele Identifier: CA233141
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 156045
dbSNP Id: rs267608409

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

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.62+5422T>A VV NP_001104262.1:p.=
NM_001316337.1:c.-422+2T>A VV NP_001303266.1:p.=
NM_004992.3:c.26+2T>A VV NP_004983.1:p.=
XM_005274681.3:c.26+2T>A XP_005274738.1:p.=
XM_005274682.3:c.-366+2T>A XP_005274739.1:p.=
XM_024452383.1:c.-792+2T>A XP_024308151.1:p.=
XM_024452384.1:c.-366+2T>A XP_024308152.1:p.=
ENST00000303391.10:c.26+2T>A ENSP00000301948.6:p.=
ENST00000369957.5:c.26+2T>A ENSP00000358973.4:p.=
ENST00000407218.5:c.62+5422T>A ENSP00000384865.2:p.=
ENST00000415944.3:c.26+2T>A ENSP00000416267.1:p.=
ENST00000453960.6:c.62+5422T>A ENSP00000395535.2:p.=
ENST00000496908.5:n.157+4631T>A
ENST00000611468.1:c.14+2T>A ENSP00000479736.1:p.=
ENST00000619732.4:c.26+2T>A ENSP00000480973.1:p.=
ENST00000622433.4:c.14+2T>A ENSP00000484470.1:p.=
ENST00000627864.1:n.201+2T>A
ENST00000628176.2:c.26+2T>A ENSP00000486978.1:p.=
ENST00000630151.1:c.26+2T>A ENSP00000486089.1:p.=
ENST00000631210.1:n.305+12599T>A