Canonical Allele Identifier: CA270500
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143653
dbSNP Id: rs61749715

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031154G>C , CM000685.2:g.154031154G>C GRCh38
NC_000023.10:g.153296605G>C , CM000685.1:g.153296605G>C GRCh37
NC_000023.9:g.152949799G>C NCBI36
NG_007107.2:g.110974C>G
NG_007107.3:g.110950C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.674C>G MANE Plus Clinical ENSP00000301948.6:p.Pro225Arg
ENST00000453960.7:c.710C>G MANE Select ENSP00000395535.2:p.Pro237Arg
ENST00000637917.1:c.66-218C>G
ENST00000303391.10:c.674C>G ENSP00000301948.6:p.Pro225Arg
ENST00000407218.5:c.*46C>G ENSP00000384865.2:n.*46C>G
ENST00000453960.6:c.710C>G ENSP00000395535.2:p.Pro237Arg
ENST00000619732.4:c.674C>G ENSP00000480973.1:p.Pro225Arg
ENST00000622433.4:c.662C>G ENSP00000484470.1:p.Pro221Arg
ENST00000628176.2:c.*46C>G ENSP00000486978.1:n.*46C>G
NM_001110792.1:c.710C>G NP_001104262.1:p.Pro237Arg
NM_001316337.1:c.395C>G NP_001303266.1:p.Pro132Arg
NM_004992.3:c.674C>G NP_004983.1:p.Pro225Arg
XM_005274681.3:c.674C>G XP_005274738.1:p.Pro225Arg
XM_005274682.3:c.395C>G XP_005274739.1:p.Pro132Arg
XM_005274683.3:c.395C>G XP_005274740.1:p.Pro132Arg
XM_006724819.2:c.5C>G XP_006724882.1:p.Pro2Arg
XM_011531166.1:c.395C>G XP_011529468.1:p.Pro132Arg
XM_006724819.3:c.5C>G XP_006724882.1:p.Pro2Arg
XM_011531166.2:c.395C>G XP_011529468.1:p.Pro132Arg
XM_024452383.1:c.395C>G XP_024308151.1:p.Pro132Arg
XM_024452384.1:c.395C>G XP_024308152.1:p.Pro132Arg
NM_001110792.2:c.710C>G MANE Select NP_001104262.1:p.Pro237Arg
NM_001316337.2:c.395C>G NP_001303266.1:p.Pro132Arg
NM_001369391.2:c.395C>G NP_001356320.1:p.Pro132Arg
NM_001369392.2:c.395C>G NP_001356321.1:p.Pro132Arg
NM_001369393.2:c.395C>G NP_001356322.1:p.Pro132Arg
NM_001369394.1:c.395C>G NP_001356323.1:p.Pro132Arg
NM_001369394.2:c.395C>G NP_001356323.1:p.Pro132Arg
NM_001386137.1:c.5C>G NP_001373066.1:p.Pro2Arg
NM_001386138.1:c.5C>G NP_001373067.1:p.Pro2Arg
NM_001386139.1:c.5C>G NP_001373068.1:p.Pro2Arg
NM_004992.4:c.674C>G MANE Plus Clinical NP_004983.1:p.Pro225Arg