Canonical Allele Identifier: CA2695105389

Gene: MECP2

Linked Data

• gnomAD v4: X-154097578-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097578C>A , CM000685.2:g.154097578C>A	GRCh38
NC_000023.10:g.153363035C>A , CM000685.1:g.153363035C>A	GRCh37
NC_000023.9:g.153016229C>A	NCBI36
NG_007107.2:g.44544G>T
NG_007107.3:g.44526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+26G>T
ENST00000303391.11:c.-99+26G>T MANE Plus Clinical	ENSP00000301948.6:n.-99+26G>T
ENST00000453960.7:c.62+26G>T MANE Select	ENSP00000395535.2:n.62+26G>T
ENST00000676382.1:n.22+26G>T
ENST00000303391.10:c.-99+26G>T	ENSP00000301948.6:n.-99+26G>T
ENST00000369957.5:c.-99+26G>T	ENSP00000358973.4:n.-99+26G>T
ENST00000407218.5:c.62+26G>T	ENSP00000384865.2:n.62+26G>T
ENST00000453960.6:c.62+26G>T	ENSP00000395535.2:n.62+26G>T
ENST00000619732.4:c.-99+26G>T	ENSP00000480973.1:n.-99+26G>T
ENST00000627864.1:n.77+26G>T
ENST00000628176.2:c.-99+26G>T	ENSP00000486978.1:n.-99+26G>T
ENST00000631210.1:n.305+7203G>T
NM_001110792.1:c.62+26G>T	NP_001104262.1:n.62+26G>T
NM_001316337.1:c.-546+26G>T	NP_001303266.1:n.-546+26G>T
NM_004992.3:c.-99+26G>T	NP_004983.1:n.-99+26G>T
XM_005274682.3:c.-490+26G>T	XP_005274739.1:n.-490+26G>T
NM_001110792.2:c.62+26G>T MANE Select	NP_001104262.1:n.62+26G>T
NM_001316337.2:c.-546+26G>T	NP_001303266.1:n.-546+26G>T
NM_001369391.2:c.-841+26G>T	NP_001356320.1:n.-841+26G>T
NM_001369392.2:c.-490+26G>T	NP_001356321.1:n.-490+26G>T
NM_001369393.2:c.-366+26G>T	NP_001356322.1:n.-366+26G>T
NM_001386137.1:c.-771+26G>T	NP_001373066.1:n.-771+26G>T
NM_001386138.1:c.-659+26G>T	NP_001373067.1:n.-659+26G>T
NM_001386139.1:c.-535+26G>T	NP_001373068.1:n.-535+26G>T
NM_004992.4:c.-99+26G>T MANE Plus Clinical	NP_004983.1:n.-99+26G>T