Canonical Allele Identifier: CA415300867

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2430069
• ClinVar RCV Id: RCV003128034
• gnomAD v4: X-154097606-T-G
• MyVariant Identifiers: chrX:g.153363063T>G (hg19) ; chrX:g.154097606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097606T>G , CM000685.2:g.154097606T>G	GRCh38
NC_000023.10:g.153363063T>G , CM000685.1:g.153363063T>G	GRCh37
NC_000023.9:g.153016257T>G	NCBI36
NG_007107.2:g.44516A>C
NG_007107.3:g.44498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.20A>C
ENST00000303391.11:c.-101A>C MANE Plus Clinical	ENSP00000301948.6:n.-101A>C
ENST00000453960.7:c.60A>C MANE Select	ENSP00000395535.2:p.Arg20Ser
ENST00000676382.1:n.20A>C
ENST00000303391.10:c.-101A>C	ENSP00000301948.6:n.-101A>C
ENST00000369957.5:c.-101A>C	ENSP00000358973.4:n.-101A>C
ENST00000407218.5:c.60A>C	ENSP00000384865.2:p.Arg20Ser
ENST00000453960.6:c.60A>C	ENSP00000395535.2:p.Arg20Ser
ENST00000619732.4:c.-101A>C	ENSP00000480973.1:n.-101A>C
ENST00000627864.1:n.75A>C
ENST00000628176.2:c.-101A>C	ENSP00000486978.1:n.-101A>C
ENST00000631210.1:n.305+7175A>C
NM_001110792.1:c.60A>C	NP_001104262.1:p.Arg20Ser
NM_001316337.1:c.-548A>C	NP_001303266.1:n.-548A>C
NM_004992.3:c.-101A>C	NP_004983.1:n.-101A>C
XM_005274682.3:c.-492A>C	XP_005274739.1:n.-492A>C
NM_001110792.2:c.60A>C MANE Select	NP_001104262.1:p.Arg20Ser
NM_001316337.2:c.-548A>C	NP_001303266.1:n.-548A>C
NM_001369391.2:c.-843A>C	NP_001356320.1:n.-843A>C
NM_001369392.2:c.-492A>C	NP_001356321.1:n.-492A>C
NM_001369393.2:c.-368A>C	NP_001356322.1:n.-368A>C
NM_001386137.1:c.-773A>C	NP_001373066.1:n.-773A>C
NM_001386138.1:c.-661A>C	NP_001373067.1:n.-661A>C
NM_001386139.1:c.-537A>C	NP_001373068.1:n.-537A>C
NM_004992.4:c.-101A>C MANE Plus Clinical	NP_004983.1:n.-101A>C