Canonical Allele Identifier: CA415300768

Gene: MECP2

Linked Data

• ClinVar Variation Id: 503729
• ClinVar RCV Id: RCV000598684 ; RCV001507030
• dbSNP Id: rs1557150841
• gnomAD v4: X-154097602-A-C
• MyVariant Identifiers: chrX:g.153363059A>C (hg19) ; chrX:g.154097602A>C (hg38)
• ERepo: CA415300768/MONDO:0010726/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097602A>C , CM000685.2:g.154097602A>C	GRCh38
NC_000023.10:g.153363059A>C , CM000685.1:g.153363059A>C	GRCh37
NC_000023.9:g.153016253A>C	NCBI36
NG_007107.2:g.44520T>G
NG_007107.3:g.44502T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+2T>G
ENST00000303391.11:c.-99+2T>G MANE Plus Clinical	ENSP00000301948.6:n.-99+2T>G
ENST00000453960.7:c.62+2T>G MANE Select	ENSP00000395535.2:n.62+2T>G
ENST00000676382.1:n.22+2T>G
ENST00000303391.10:c.-99+2T>G	ENSP00000301948.6:n.-99+2T>G
ENST00000369957.5:c.-99+2T>G	ENSP00000358973.4:n.-99+2T>G
ENST00000407218.5:c.62+2T>G	ENSP00000384865.2:n.62+2T>G
ENST00000453960.6:c.62+2T>G	ENSP00000395535.2:n.62+2T>G
ENST00000619732.4:c.-99+2T>G	ENSP00000480973.1:n.-99+2T>G
ENST00000627864.1:n.77+2T>G
ENST00000628176.2:c.-99+2T>G	ENSP00000486978.1:n.-99+2T>G
ENST00000631210.1:n.305+7179T>G
NM_001110792.1:c.62+2T>G	NP_001104262.1:n.62+2T>G
NM_001316337.1:c.-546+2T>G	NP_001303266.1:n.-546+2T>G
NM_004992.3:c.-99+2T>G	NP_004983.1:n.-99+2T>G
XM_005274682.3:c.-490+2T>G	XP_005274739.1:n.-490+2T>G
NM_001110792.2:c.62+2T>G MANE Select	NP_001104262.1:n.62+2T>G
NM_001316337.2:c.-546+2T>G	NP_001303266.1:n.-546+2T>G
NM_001369391.2:c.-841+2T>G	NP_001356320.1:n.-841+2T>G
NM_001369392.2:c.-490+2T>G	NP_001356321.1:n.-490+2T>G
NM_001369393.2:c.-366+2T>G	NP_001356322.1:n.-366+2T>G
NM_001386137.1:c.-771+2T>G	NP_001373066.1:n.-771+2T>G
NM_001386138.1:c.-659+2T>G	NP_001373067.1:n.-659+2T>G
NM_001386139.1:c.-535+2T>G	NP_001373068.1:n.-535+2T>G
NM_004992.4:c.-99+2T>G MANE Plus Clinical	NP_004983.1:n.-99+2T>G