Canonical Allele Identifier: CA2695105456
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097669C>T , CM000685.2:g.154097669C>T GRCh38
NC_000023.10:g.153363126C>T , CM000685.1:g.153363126C>T GRCh37
NC_000023.9:g.153016320C>T NCBI36
NG_007107.2:g.44453G>A
NG_007107.3:g.44435G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.-164G>A MANE Plus Clinical ENSP00000301948.6:n.-164G>A
ENST00000453960.7:c.-4G>A MANE Select ENSP00000395535.2:n.-4G>A
ENST00000303391.10:c.-164G>A ENSP00000301948.6:n.-164G>A
ENST00000407218.5:c.-4G>A ENSP00000384865.2:n.-4G>A
ENST00000453960.6:c.-4G>A ENSP00000395535.2:n.-4G>A
ENST00000619732.4:c.-164G>A ENSP00000480973.1:n.-164G>A
ENST00000627864.1:n.12G>A
ENST00000628176.2:c.-164G>A ENSP00000486978.1:n.-164G>A
ENST00000631210.1:n.305+7112G>A
NM_001110792.1:c.-4G>A NP_001104262.1:n.-4G>A
NM_001316337.1:c.-611G>A NP_001303266.1:n.-611G>A
NM_004992.3:c.-164G>A NP_004983.1:n.-164G>A
XM_005274682.3:c.-555G>A XP_005274739.1:n.-555G>A
NM_001110792.2:c.-4G>A MANE Select NP_001104262.1:n.-4G>A
NM_001316337.2:c.-611G>A NP_001303266.1:n.-611G>A
NM_001369391.2:c.-906G>A NP_001356320.1:n.-906G>A
NM_001369392.2:c.-555G>A NP_001356321.1:n.-555G>A
NM_001369393.2:c.-431G>A NP_001356322.1:n.-431G>A
NM_001386137.1:c.-836G>A NP_001373066.1:n.-836G>A
NM_001386138.1:c.-724G>A NP_001373067.1:n.-724G>A
NM_001386139.1:c.-600G>A NP_001373068.1:n.-600G>A
NM_004992.4:c.-164G>A MANE Plus Clinical NP_004983.1:n.-164G>A