Canonical Allele Identifier: CA415301325

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1483849
• ClinVar RCV Id: RCV002028145
• dbSNP Id: rs2148770895
• gnomAD v3: X-154097637-C-G
• gnomAD v4: X-154097637-C-G
• MyVariant Identifiers: chrX:g.153363094C>G (hg19) ; chrX:g.154097637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097637C>G , CM000685.2:g.154097637C>G	GRCh38
NC_000023.10:g.153363094C>G , CM000685.1:g.153363094C>G	GRCh37
NC_000023.9:g.153016288C>G	NCBI36
NG_007107.2:g.44485G>C
NG_007107.3:g.44467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-132G>C MANE Plus Clinical	ENSP00000301948.6:n.-132G>C
ENST00000453960.7:c.29G>C MANE Select	ENSP00000395535.2:p.Ser10Thr
ENST00000303391.10:c.-132G>C	ENSP00000301948.6:n.-132G>C
ENST00000369957.5:c.-132G>C	ENSP00000358973.4:n.-132G>C
ENST00000407218.5:c.29G>C	ENSP00000384865.2:p.Ser10Thr
ENST00000453960.6:c.29G>C	ENSP00000395535.2:p.Ser10Thr
ENST00000619732.4:c.-132G>C	ENSP00000480973.1:n.-132G>C
ENST00000627864.1:n.44G>C
ENST00000628176.2:c.-132G>C	ENSP00000486978.1:n.-132G>C
ENST00000631210.1:n.305+7144G>C
NM_001110792.1:c.29G>C	NP_001104262.1:p.Ser10Thr
NM_001316337.1:c.-579G>C	NP_001303266.1:n.-579G>C
NM_004992.3:c.-132G>C	NP_004983.1:n.-132G>C
XM_005274682.3:c.-523G>C	XP_005274739.1:n.-523G>C
NM_001110792.2:c.29G>C MANE Select	NP_001104262.1:p.Ser10Thr
NM_001316337.2:c.-579G>C	NP_001303266.1:n.-579G>C
NM_001369391.2:c.-874G>C	NP_001356320.1:n.-874G>C
NM_001369392.2:c.-523G>C	NP_001356321.1:n.-523G>C
NM_001369393.2:c.-399G>C	NP_001356322.1:n.-399G>C
NM_001386137.1:c.-804G>C	NP_001373066.1:n.-804G>C
NM_001386138.1:c.-692G>C	NP_001373067.1:n.-692G>C
NM_001386139.1:c.-568G>C	NP_001373068.1:n.-568G>C
NM_004992.4:c.-132G>C MANE Plus Clinical	NP_004983.1:n.-132G>C