Canonical Allele Identifier: CA212520
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11829
ClinVar RCV Id: RCV000012602 RCV000081209 RCV000169938 RCV000515183 RCV000553858
dbSNP Id: rs61749721
MyVariant Identifiers: chrX:g.153296516G>A (hg19) chrX:g.154031065G>A (hg38)
PubMed: PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10854091 PMID:11007980 PMID:11055898 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11446411 PMID:11462237 PMID:11524741 PMID:11738883 PMID:11738885 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12111643 PMID:12180070 PMID:12325033 PMID:12567420 PMID:15057977 PMID:15173251 PMID:15389714 PMID:15526954 PMID:15737703 PMID:16473305 PMID:16672765 PMID:16763963 PMID:17089071 PMID:17387578 PMID:17986102 PMID:18174559 PMID:18332345 PMID:19652677 PMID:19722030 PMID:20031356 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22476991 PMID:22525432 PMID:23262346 PMID:23810759 PMID:28135719 PMID:28263302
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031065G>A , CM000685.2:g.154031065G>A GRCh38
NC_000023.10:g.153296516G>A , CM000685.1:g.153296516G>A GRCh37
NC_000023.9:g.152949710G>A NCBI36
NG_007107.2:g.111063C>T
NG_007107.3:g.111039C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.763C>T MANE Plus Clinical ENSP00000301948.6:p.Arg255Ter
ENST00000453960.7:c.799C>T MANE Select ENSP00000395535.2:p.Arg267Ter
ENST00000637917.1:c.66-129C>T
ENST00000303391.10:c.763C>T ENSP00000301948.6:p.Arg255Ter
ENST00000407218.5:c.*135C>T ENSP00000384865.2:n.*135C>T
ENST00000453960.6:c.799C>T ENSP00000395535.2:p.Arg267Ter
ENST00000619732.4:c.763C>T ENSP00000480973.1:p.Arg255Ter
ENST00000622433.4:c.751C>T ENSP00000484470.1:p.Arg251Ter
ENST00000628176.2:c.*135C>T ENSP00000486978.1:n.*135C>T
NM_001110792.1:c.799C>T NP_001104262.1:p.Arg267Ter
NM_001316337.1:c.484C>T NP_001303266.1:p.Arg162Ter
NM_004992.3:c.763C>T NP_004983.1:p.Arg255Ter
XM_005274681.3:c.763C>T XP_005274738.1:p.Arg255Ter
XM_005274682.3:c.484C>T XP_005274739.1:p.Arg162Ter
XM_005274683.3:c.484C>T XP_005274740.1:p.Arg162Ter
XM_006724819.2:c.94C>T XP_006724882.1:p.Arg32Ter
XM_011531166.1:c.484C>T XP_011529468.1:p.Arg162Ter
XM_006724819.3:c.94C>T XP_006724882.1:p.Arg32Ter
XM_011531166.2:c.484C>T XP_011529468.1:p.Arg162Ter
XM_024452383.1:c.484C>T XP_024308151.1:p.Arg162Ter
XM_024452384.1:c.484C>T XP_024308152.1:p.Arg162Ter
NM_001110792.2:c.799C>T MANE Select NP_001104262.1:p.Arg267Ter
NM_001316337.2:c.484C>T NP_001303266.1:p.Arg162Ter
NM_001369391.2:c.484C>T NP_001356320.1:p.Arg162Ter
NM_001369392.2:c.484C>T NP_001356321.1:p.Arg162Ter
NM_001369393.2:c.484C>T NP_001356322.1:p.Arg162Ter
NM_001369394.1:c.484C>T NP_001356323.1:p.Arg162Ter
NM_001369394.2:c.484C>T NP_001356323.1:p.Arg162Ter
NM_001386137.1:c.94C>T NP_001373066.1:p.Arg32Ter
NM_001386138.1:c.94C>T NP_001373067.1:p.Arg32Ter
NM_001386139.1:c.94C>T NP_001373068.1:p.Arg32Ter
NM_004992.4:c.763C>T MANE Plus Clinical NP_004983.1:p.Arg255Ter
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