Canonical Allele Identifier: CA260436
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36493
ClinVar RCV Id: RCV000030165
dbSNP Id: rs193922679

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031254T>A , CM000685.2:g.154031254T>A GRCh38
NC_000023.10:g.153296705T>A , CM000685.1:g.153296705T>A GRCh37
NC_000023.9:g.152949899T>A NCBI36
NG_007107.2:g.110874A>T

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.610A>T VV NP_001104262.1:p.Lys204Ter
NM_001316337.1:c.295A>T VV NP_001303266.1:p.Lys99Ter
NM_004992.3:c.574A>T VV NP_004983.1:p.Lys192Ter
XM_005274681.3:c.574A>T XP_005274738.1:p.Lys192Ter
XM_005274682.3:c.295A>T XP_005274739.1:p.Lys99Ter
XM_005274683.3:c.295A>T XP_005274740.1:p.Lys99Ter
XM_006724819.2:c.-96A>T XP_006724882.1:p.=
XM_011531166.1:c.295A>T XP_011529468.1:p.Lys99Ter
XM_006724819.3:c.-96A>T XP_006724882.1:p.=
XM_011531166.2:c.295A>T XP_011529468.1:p.Lys99Ter
XM_024452383.1:c.295A>T XP_024308151.1:p.Lys99Ter
XM_024452384.1:c.295A>T XP_024308152.1:p.Lys99Ter
ENST00000303391.10:c.574A>T ENSP00000301948.6:p.Lys192Ter
ENST00000407218.5:c.501A>T ENSP00000384865.2:p.Pro167=
ENST00000453960.6:c.610A>T ENSP00000395535.2:p.Lys204Ter
ENST00000619732.4:c.574A>T ENSP00000480973.1:p.Lys192Ter
ENST00000622433.4:c.562A>T ENSP00000484470.1:p.Lys188Ter
ENST00000628176.2:c.465A>T ENSP00000486978.1:p.Pro155=