Canonical Allele Identifier: CA212529
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11824
dbSNP Id: rs28935468

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030912G>A , CM000685.2:g.154030912G>A GRCh38
NC_000023.10:g.153296363G>A , CM000685.1:g.153296363G>A GRCh37
NC_000023.9:g.152949557G>A NCBI36
NG_007107.2:g.111216C>T

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.952C>T VV NP_001104262.1:p.Arg318Cys
NM_001316337.1:c.637C>T VV NP_001303266.1:p.Arg213Cys
NM_004992.3:c.916C>T VV NP_004983.1:p.Arg306Cys
XM_005274681.3:c.916C>T XP_005274738.1:p.Arg306Cys
XM_005274682.3:c.637C>T XP_005274739.1:p.Arg213Cys
XM_005274683.3:c.637C>T XP_005274740.1:p.Arg213Cys
XM_006724819.2:c.247C>T XP_006724882.1:p.Arg83Cys
XM_011531166.1:c.637C>T XP_011529468.1:p.Arg213Cys
XM_006724819.3:c.247C>T XP_006724882.1:p.Arg83Cys
XM_011531166.2:c.637C>T XP_011529468.1:p.Arg213Cys
XM_024452383.1:c.637C>T XP_024308151.1:p.Arg213Cys
XM_024452384.1:c.637C>T XP_024308152.1:p.Arg213Cys
ENST00000303391.10:c.916C>T ENSP00000301948.6:p.Arg306Cys
ENST00000407218.5:c.*288C>T ENSP00000384865.2:p.=
ENST00000453960.6:c.952C>T ENSP00000395535.2:p.Arg318Cys
ENST00000619732.4:c.916C>T ENSP00000480973.1:p.Arg306Cys
ENST00000622433.4:c.902C>T ENSP00000484470.1:p.Ala301Val
ENST00000628176.2:c.*288C>T ENSP00000486978.1:p.=