Canonical Allele Identifier: CA2695104985

Gene: MECP2

Linked Data

• gnomAD v4: X-154097385-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097385T>C , CM000685.2:g.154097385T>C	GRCh38
NC_000023.10:g.153362842T>C , CM000685.1:g.153362842T>C	GRCh37
NC_000023.9:g.153016036T>C	NCBI36
NG_007107.2:g.44737A>G
NG_007107.3:g.44719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+219A>G
ENST00000303391.11:c.-99+219A>G MANE Plus Clinical	ENSP00000301948.6:n.-99+219A>G
ENST00000453960.7:c.62+219A>G MANE Select	ENSP00000395535.2:n.62+219A>G
ENST00000676382.1:n.22+219A>G
ENST00000303391.10:c.-99+219A>G	ENSP00000301948.6:n.-99+219A>G
ENST00000369957.5:c.-99+219A>G	ENSP00000358973.4:n.-99+219A>G
ENST00000407218.5:c.62+219A>G	ENSP00000384865.2:n.62+219A>G
ENST00000453960.6:c.62+219A>G	ENSP00000395535.2:n.62+219A>G
ENST00000619732.4:c.-99+219A>G	ENSP00000480973.1:n.-99+219A>G
ENST00000627864.1:n.77+219A>G
ENST00000628176.2:c.-99+219A>G	ENSP00000486978.1:n.-99+219A>G
ENST00000629277.1:n.139A>G
ENST00000631210.1:n.305+7396A>G
NM_001110792.1:c.62+219A>G	NP_001104262.1:n.62+219A>G
NM_001316337.1:c.-546+219A>G	NP_001303266.1:n.-546+219A>G
NM_004992.3:c.-99+219A>G	NP_004983.1:n.-99+219A>G
XM_005274682.3:c.-490+219A>G	XP_005274739.1:n.-490+219A>G
NM_001110792.2:c.62+219A>G MANE Select	NP_001104262.1:n.62+219A>G
NM_001316337.2:c.-546+219A>G	NP_001303266.1:n.-546+219A>G
NM_001369391.2:c.-841+219A>G	NP_001356320.1:n.-841+219A>G
NM_001369392.2:c.-490+219A>G	NP_001356321.1:n.-490+219A>G
NM_001369393.2:c.-366+219A>G	NP_001356322.1:n.-366+219A>G
NM_001386137.1:c.-771+219A>G	NP_001373066.1:n.-771+219A>G
NM_001386138.1:c.-659+219A>G	NP_001373067.1:n.-659+219A>G
NM_001386139.1:c.-535+219A>G	NP_001373068.1:n.-535+219A>G
NM_004992.4:c.-99+219A>G MANE Plus Clinical	NP_004983.1:n.-99+219A>G