Canonical Allele Identifier: CA2695105518

Gene: MECP2

Linked Data

• gnomAD v4: X-154097710-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097710G>A , CM000685.2:g.154097710G>A	GRCh38
NC_000023.10:g.153363167G>A , CM000685.1:g.153363167G>A	GRCh37
NC_000023.9:g.153016361G>A	NCBI36
NG_007107.2:g.44412C>T
NG_007107.3:g.44394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-205C>T MANE Plus Clinical	ENSP00000301948.6:n.-205C>T
ENST00000453960.7:c.-45C>T MANE Select	ENSP00000395535.2:n.-45C>T
ENST00000303391.10:c.-205C>T	ENSP00000301948.6:n.-205C>T
ENST00000453960.6:c.-45C>T	ENSP00000395535.2:n.-45C>T
ENST00000619732.4:c.-205C>T	ENSP00000480973.1:n.-205C>T
ENST00000628176.2:c.-205C>T	ENSP00000486978.1:n.-205C>T
ENST00000631210.1:n.305+7071C>T
NM_001110792.1:c.-45C>T	NP_001104262.1:n.-45C>T
NM_001316337.1:c.-652C>T	NP_001303266.1:n.-652C>T
NM_004992.3:c.-205C>T	NP_004983.1:n.-205C>T
NM_001110792.2:c.-45C>T MANE Select	NP_001104262.1:n.-45C>T
NM_001316337.2:c.-652C>T	NP_001303266.1:n.-652C>T
NM_001369391.2:c.-947C>T	NP_001356320.1:n.-947C>T
NM_001369392.2:c.-596C>T	NP_001356321.1:n.-596C>T
NM_001369393.2:c.-472C>T	NP_001356322.1:n.-472C>T
NM_001386137.1:c.-877C>T	NP_001373066.1:n.-877C>T
NM_001386138.1:c.-765C>T	NP_001373067.1:n.-765C>T
NM_001386139.1:c.-641C>T	NP_001373068.1:n.-641C>T
NM_004992.4:c.-205C>T MANE Plus Clinical	NP_004983.1:n.-205C>T