Canonical Allele Identifier: CA415178262

Gene: MECP2

Linked Data

• dbSNP Id: rs2065989454
• gnomAD v4: X-154032468-T-C
• MyVariant Identifiers: chrX:g.153297919T>C (hg19) ; chrX:g.154032468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032468T>C , CM000685.2:g.154032468T>C	GRCh38
NC_000023.10:g.153297919T>C , CM000685.1:g.153297919T>C	GRCh37
NC_000023.9:g.152951113T>C	NCBI36
NG_007107.2:g.109660A>G
NG_007107.3:g.109636A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.116A>G MANE Plus Clinical	ENSP00000301948.6:p.Lys39Arg
ENST00000453960.7:c.152A>G MANE Select	ENSP00000395535.2:p.Lys51Arg
ENST00000611468.2:n.364A>G
ENST00000630151.2:c.116A>G	ENSP00000486089.1:p.Lys39Arg
ENST00000676382.1:n.309A>G
ENST00000303391.10:c.116A>G	ENSP00000301948.6:p.Lys39Arg
ENST00000369957.5:c.*170A>G	ENSP00000358973.4:n.*170A>G
ENST00000407218.5:c.152A>G	ENSP00000384865.2:p.Lys51Arg
ENST00000415944.3:c.116A>G	ENSP00000416267.1:p.Lys39Arg
ENST00000453960.6:c.152A>G	ENSP00000395535.2:p.Lys51Arg
ENST00000460227.4:n.1265A>G
ENST00000463644.5:n.1055A>G
ENST00000481807.3:n.402A>G
ENST00000486506.5:n.2464A>G
ENST00000488293.4:n.1165A>G
ENST00000496908.5:n.247A>G
ENST00000611468.1:c.104A>G	ENSP00000479736.1:p.Lys35Arg
ENST00000619732.4:c.116A>G	ENSP00000480973.1:p.Lys39Arg
ENST00000622433.4:c.104A>G	ENSP00000484470.1:p.Lys35Arg
ENST00000625300.1:n.341A>G
ENST00000626422.2:n.826A>G
ENST00000628176.2:c.116A>G	ENSP00000486978.1:p.Lys39Arg
ENST00000630151.1:c.116A>G	ENSP00000486089.1:p.Lys39Arg
ENST00000631210.1:n.395A>G
NM_001110792.1:c.152A>G	NP_001104262.1:p.Lys51Arg
NM_001316337.1:c.-164A>G	NP_001303266.1:n.-164A>G
NM_004992.3:c.116A>G	NP_004983.1:p.Lys39Arg
XM_005274681.3:c.116A>G	XP_005274738.1:p.Lys39Arg
XM_005274682.3:c.-164A>G	XP_005274739.1:n.-164A>G
XM_005274683.3:c.-164A>G	XP_005274740.1:n.-164A>G
XM_011531166.1:c.-164A>G	XP_011529468.1:n.-164A>G
XM_006724819.3:c.-445A>G	XP_006724882.1:n.-445A>G
XM_011531166.2:c.-164A>G	XP_011529468.1:n.-164A>G
XM_024452383.1:c.-164A>G	XP_024308151.1:n.-164A>G
XM_024452384.1:c.-164A>G	XP_024308152.1:n.-164A>G
NM_001110792.2:c.152A>G MANE Select	NP_001104262.1:p.Lys51Arg
NM_001316337.2:c.-164A>G	NP_001303266.1:n.-164A>G
NM_001369391.2:c.-164A>G	NP_001356320.1:n.-164A>G
NM_001369392.2:c.-164A>G	NP_001356321.1:n.-164A>G
NM_001369393.2:c.-164A>G	NP_001356322.1:n.-164A>G
NM_001369394.1:c.-164A>G	NP_001356323.1:n.-164A>G
NM_001369394.2:c.-164A>G	NP_001356323.1:n.-164A>G
NM_001386137.1:c.-445A>G	NP_001373066.1:n.-445A>G
NM_001386138.1:c.-445A>G	NP_001373067.1:n.-445A>G
NM_001386139.1:c.-445A>G	NP_001373068.1:n.-445A>G
NM_004992.4:c.116A>G MANE Plus Clinical	NP_004983.1:p.Lys39Arg