Canonical Allele Identifier: CA415301203

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2032447
• ClinVar RCV Id: RCV002876994
• gnomAD v4: X-154097629-C-G
• MyVariant Identifiers: chrX:g.153363086C>G (hg19) ; chrX:g.154097629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097629C>G , CM000685.2:g.154097629C>G	GRCh38
NC_000023.10:g.153363086C>G , CM000685.1:g.153363086C>G	GRCh37
NC_000023.9:g.153016280C>G	NCBI36
NG_007107.2:g.44493G>C
NG_007107.3:g.44475G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-124G>C MANE Plus Clinical	ENSP00000301948.6:n.-124G>C
ENST00000453960.7:c.37G>C MANE Select	ENSP00000395535.2:p.Gly13Arg
ENST00000303391.10:c.-124G>C	ENSP00000301948.6:n.-124G>C
ENST00000369957.5:c.-124G>C	ENSP00000358973.4:n.-124G>C
ENST00000407218.5:c.37G>C	ENSP00000384865.2:p.Gly13Arg
ENST00000453960.6:c.37G>C	ENSP00000395535.2:p.Gly13Arg
ENST00000619732.4:c.-124G>C	ENSP00000480973.1:n.-124G>C
ENST00000627864.1:n.52G>C
ENST00000628176.2:c.-124G>C	ENSP00000486978.1:n.-124G>C
ENST00000631210.1:n.305+7152G>C
NM_001110792.1:c.37G>C	NP_001104262.1:p.Gly13Arg
NM_001316337.1:c.-571G>C	NP_001303266.1:n.-571G>C
NM_004992.3:c.-124G>C	NP_004983.1:n.-124G>C
XM_005274682.3:c.-515G>C	XP_005274739.1:n.-515G>C
NM_001110792.2:c.37G>C MANE Select	NP_001104262.1:p.Gly13Arg
NM_001316337.2:c.-571G>C	NP_001303266.1:n.-571G>C
NM_001369391.2:c.-866G>C	NP_001356320.1:n.-866G>C
NM_001369392.2:c.-515G>C	NP_001356321.1:n.-515G>C
NM_001369393.2:c.-391G>C	NP_001356322.1:n.-391G>C
NM_001386137.1:c.-796G>C	NP_001373066.1:n.-796G>C
NM_001386138.1:c.-684G>C	NP_001373067.1:n.-684G>C
NM_001386139.1:c.-560G>C	NP_001373068.1:n.-560G>C
NM_004992.4:c.-124G>C MANE Plus Clinical	NP_004983.1:n.-124G>C