Canonical Allele Identifier: CA415177482

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1625603
• ClinVar RCV Id: RCV002109086
• dbSNP Id: rs1557137874
• gnomAD v2: X-153297823-G-T
• gnomAD v3: X-154032372-G-T
• gnomAD v4: X-154032372-G-T
• MyVariant Identifiers: chrX:g.153297823G>T (hg19) ; chrX:g.154032372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032372G>T , CM000685.2:g.154032372G>T	GRCh38
NC_000023.10:g.153297823G>T , CM000685.1:g.153297823G>T	GRCh37
NC_000023.9:g.152951017G>T	NCBI36
NG_007107.2:g.109756C>A
NG_007107.3:g.109732C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.212C>A MANE Plus Clinical	ENSP00000301948.6:p.Ala71Asp
ENST00000453960.7:c.248C>A MANE Select	ENSP00000395535.2:p.Ala83Asp
ENST00000303391.10:c.212C>A	ENSP00000301948.6:p.Ala71Asp
ENST00000369957.5:c.*266C>A	ENSP00000358973.4:n.*266C>A
ENST00000407218.5:c.248C>A	ENSP00000384865.2:p.Ala83Asp
ENST00000453960.6:c.248C>A	ENSP00000395535.2:p.Ala83Asp
ENST00000486506.5:n.2560C>A
ENST00000611468.1:c.200C>A	ENSP00000479736.1:p.Ala67Asp
ENST00000619732.4:c.212C>A	ENSP00000480973.1:p.Ala71Asp
ENST00000622433.4:c.200C>A	ENSP00000484470.1:p.Ala67Asp
ENST00000628176.2:c.212C>A	ENSP00000486978.1:p.Ala71Asp
NM_001110792.1:c.248C>A	NP_001104262.1:p.Ala83Asp
NM_001316337.1:c.-68C>A	NP_001303266.1:n.-68C>A
NM_004992.3:c.212C>A	NP_004983.1:p.Ala71Asp
XM_005274681.3:c.212C>A	XP_005274738.1:p.Ala71Asp
XM_005274682.3:c.-68C>A	XP_005274739.1:n.-68C>A
XM_005274683.3:c.-68C>A	XP_005274740.1:n.-68C>A
XM_011531166.1:c.-68C>A	XP_011529468.1:n.-68C>A
XM_006724819.3:c.-349C>A	XP_006724882.1:n.-349C>A
XM_011531166.2:c.-68C>A	XP_011529468.1:n.-68C>A
XM_024452383.1:c.-68C>A	XP_024308151.1:n.-68C>A
XM_024452384.1:c.-68C>A	XP_024308152.1:n.-68C>A
NM_001110792.2:c.248C>A MANE Select	NP_001104262.1:p.Ala83Asp
NM_001316337.2:c.-68C>A	NP_001303266.1:n.-68C>A
NM_001369391.2:c.-68C>A	NP_001356320.1:n.-68C>A
NM_001369392.2:c.-68C>A	NP_001356321.1:n.-68C>A
NM_001369393.2:c.-68C>A	NP_001356322.1:n.-68C>A
NM_001369394.1:c.-68C>A	NP_001356323.1:n.-68C>A
NM_001369394.2:c.-68C>A	NP_001356323.1:n.-68C>A
NM_001386137.1:c.-349C>A	NP_001373066.1:n.-349C>A
NM_001386138.1:c.-349C>A	NP_001373067.1:n.-349C>A
NM_001386139.1:c.-349C>A	NP_001373068.1:n.-349C>A
NM_004992.4:c.212C>A MANE Plus Clinical	NP_004983.1:p.Ala71Asp