Canonical Allele Identifier: CA2695105517

Gene: MECP2

Linked Data

• gnomAD v4: X-154097709-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097709A>G , CM000685.2:g.154097709A>G	GRCh38
NC_000023.10:g.153363166A>G , CM000685.1:g.153363166A>G	GRCh37
NC_000023.9:g.153016360A>G	NCBI36
NG_007107.2:g.44413T>C
NG_007107.3:g.44395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-204T>C MANE Plus Clinical	ENSP00000301948.6:n.-204T>C
ENST00000453960.7:c.-44T>C MANE Select	ENSP00000395535.2:n.-44T>C
ENST00000303391.10:c.-204T>C	ENSP00000301948.6:n.-204T>C
ENST00000453960.6:c.-44T>C	ENSP00000395535.2:n.-44T>C
ENST00000619732.4:c.-204T>C	ENSP00000480973.1:n.-204T>C
ENST00000628176.2:c.-204T>C	ENSP00000486978.1:n.-204T>C
ENST00000631210.1:n.305+7072T>C
NM_001110792.1:c.-44T>C	NP_001104262.1:n.-44T>C
NM_001316337.1:c.-651T>C	NP_001303266.1:n.-651T>C
NM_004992.3:c.-204T>C	NP_004983.1:n.-204T>C
NM_001110792.2:c.-44T>C MANE Select	NP_001104262.1:n.-44T>C
NM_001316337.2:c.-651T>C	NP_001303266.1:n.-651T>C
NM_001369391.2:c.-946T>C	NP_001356320.1:n.-946T>C
NM_001369392.2:c.-595T>C	NP_001356321.1:n.-595T>C
NM_001369393.2:c.-471T>C	NP_001356322.1:n.-471T>C
NM_001386137.1:c.-876T>C	NP_001373066.1:n.-876T>C
NM_001386138.1:c.-764T>C	NP_001373067.1:n.-764T>C
NM_001386139.1:c.-640T>C	NP_001373068.1:n.-640T>C
NM_004992.4:c.-204T>C MANE Plus Clinical	NP_004983.1:n.-204T>C