Canonical Allele Identifier: CA294696

Gene: MECP2

Linked Data

• ClinVar Variation Id: 156662
• ClinVar RCV Id: RCV000144805
• dbSNP Id: rs587783133
• MyVariant Identifiers: chrX:g.153363066C>G (hg19) ; chrX:g.154097609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097609C>G , CM000685.2:g.154097609C>G	GRCh38
NC_000023.10:g.153363066C>G , CM000685.1:g.153363066C>G	GRCh37
NC_000023.9:g.153016260C>G	NCBI36
NG_007107.2:g.44513G>C
NG_007107.3:g.44495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.17G>C
ENST00000303391.11:c.-104G>C MANE Plus Clinical	ENSP00000301948.6:n.-104G>C
ENST00000453960.7:c.57G>C MANE Select	ENSP00000395535.2:p.Glu19Asp
ENST00000676382.1:n.17G>C
ENST00000303391.10:c.-104G>C	ENSP00000301948.6:n.-104G>C
ENST00000369957.5:c.-104G>C	ENSP00000358973.4:n.-104G>C
ENST00000407218.5:c.57G>C	ENSP00000384865.2:p.Glu19Asp
ENST00000453960.6:c.57G>C	ENSP00000395535.2:p.Glu19Asp
ENST00000619732.4:c.-104G>C	ENSP00000480973.1:n.-104G>C
ENST00000627864.1:n.72G>C
ENST00000628176.2:c.-104G>C	ENSP00000486978.1:n.-104G>C
ENST00000631210.1:n.305+7172G>C
NM_001110792.1:c.57G>C	NP_001104262.1:p.Glu19Asp
NM_001316337.1:c.-551G>C	NP_001303266.1:n.-551G>C
NM_004992.3:c.-104G>C	NP_004983.1:n.-104G>C
XM_005274682.3:c.-495G>C	XP_005274739.1:n.-495G>C
NM_001110792.2:c.57G>C MANE Select	NP_001104262.1:p.Glu19Asp
NM_001316337.2:c.-551G>C	NP_001303266.1:n.-551G>C
NM_001369391.2:c.-846G>C	NP_001356320.1:n.-846G>C
NM_001369392.2:c.-495G>C	NP_001356321.1:n.-495G>C
NM_001369393.2:c.-371G>C	NP_001356322.1:n.-371G>C
NM_001386137.1:c.-776G>C	NP_001373066.1:n.-776G>C
NM_001386138.1:c.-664G>C	NP_001373067.1:n.-664G>C
NM_001386139.1:c.-540G>C	NP_001373068.1:n.-540G>C
NM_004992.4:c.-104G>C MANE Plus Clinical	NP_004983.1:n.-104G>C