Canonical Allele Identifier: CA873305660

Gene: MECP2

Linked Data

• dbSNP Id: rs1182855883
• gnomAD v3: X-154097370-T-G
• gnomAD v4: X-154097370-T-G
• MyVariant Identifiers: chrX:g.154097370T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097370T>G , CM000685.2:g.154097370T>G	GRCh38
NC_000023.10:g.153362827T>G , CM000685.1:g.153362827T>G	GRCh37
NC_000023.9:g.153016021T>G	NCBI36
NG_007107.2:g.44752A>C
NG_007107.3:g.44734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+234A>C
ENST00000303391.11:c.-99+234A>C MANE Plus Clinical	ENSP00000301948.6:n.-99+234A>C
ENST00000453960.7:c.62+234A>C MANE Select	ENSP00000395535.2:n.62+234A>C
ENST00000676382.1:n.22+234A>C
ENST00000303391.10:c.-99+234A>C	ENSP00000301948.6:n.-99+234A>C
ENST00000369957.5:c.-99+234A>C	ENSP00000358973.4:n.-99+234A>C
ENST00000407218.5:c.62+234A>C	ENSP00000384865.2:n.62+234A>C
ENST00000453960.6:c.62+234A>C	ENSP00000395535.2:n.62+234A>C
ENST00000619732.4:c.-99+234A>C	ENSP00000480973.1:n.-99+234A>C
ENST00000627864.1:n.77+234A>C
ENST00000628176.2:c.-99+234A>C	ENSP00000486978.1:n.-99+234A>C
ENST00000629277.1:n.154A>C
ENST00000631210.1:n.305+7411A>C
NM_001110792.1:c.62+234A>C	NP_001104262.1:n.62+234A>C
NM_001316337.1:c.-546+234A>C	NP_001303266.1:n.-546+234A>C
NM_004992.3:c.-99+234A>C	NP_004983.1:n.-99+234A>C
XM_005274682.3:c.-490+234A>C	XP_005274739.1:n.-490+234A>C
NM_001110792.2:c.62+234A>C MANE Select	NP_001104262.1:n.62+234A>C
NM_001316337.2:c.-546+234A>C	NP_001303266.1:n.-546+234A>C
NM_001369391.2:c.-841+234A>C	NP_001356320.1:n.-841+234A>C
NM_001369392.2:c.-490+234A>C	NP_001356321.1:n.-490+234A>C
NM_001369393.2:c.-366+234A>C	NP_001356322.1:n.-366+234A>C
NM_001386137.1:c.-771+234A>C	NP_001373066.1:n.-771+234A>C
NM_001386138.1:c.-659+234A>C	NP_001373067.1:n.-659+234A>C
NM_001386139.1:c.-535+234A>C	NP_001373068.1:n.-535+234A>C
NM_004992.4:c.-99+234A>C MANE Plus Clinical	NP_004983.1:n.-99+234A>C