Canonical Allele Identifier: CA873306009

Gene: MECP2

Linked Data

• dbSNP Id: rs1382191289
• gnomAD v3: X-154097719-C-G
• gnomAD v4: X-154097719-C-G
• MyVariant Identifiers: chrX:g.154097719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097719C>G , CM000685.2:g.154097719C>G	GRCh38
NC_000023.10:g.153363176C>G , CM000685.1:g.153363176C>G	GRCh37
NC_000023.9:g.153016370C>G	NCBI36
NG_007107.2:g.44403G>C
NG_007107.3:g.44385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.10:c.-214G>C	ENSP00000301948.6:n.-214G>C
ENST00000453960.6:c.-54G>C	ENSP00000395535.2:n.-54G>C
ENST00000619732.4:c.-214G>C	ENSP00000480973.1:n.-214G>C
ENST00000628176.2:c.-214G>C	ENSP00000486978.1:n.-214G>C
ENST00000631210.1:n.305+7062G>C
NM_001110792.1:c.-54G>C	NP_001104262.1:n.-54G>C
NM_001316337.1:c.-661G>C	NP_001303266.1:n.-661G>C
NM_004992.3:c.-214G>C	NP_004983.1:n.-214G>C