Canonical Allele Identifier: CA270500

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143653
• ClinVar RCV Id: RCV000133193 ; RCV000626873 ; RCV000476280 ; RCV001090502 ; RCV004532609
• dbSNP Id: rs61749715
• MyVariant Identifiers: chrX:g.153296605G>C (hg19) ; chrX:g.154031154G>C (hg38)
• PubMed: PMID:10854091 ; PMID:11245712 ; PMID:11524741 ; PMID:12075485 ; PMID:12111643 ; PMID:12180070 ; PMID:16473305 ; PMID:16690727 ; PMID:17089071 ; PMID:17387578 ; PMID:21160487 ; PMID:21954873

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