Canonical Allele Identifier: CA148310

Gene: MECP2

Linked Data

• ClinVar Variation Id: 95193
• ClinVar RCV Id: RCV001705752 ; RCV003227636 ; RCV003380415 ; RCV003945018
• dbSNP Id: rs185957513
• ExAC: X:153295906 C / T
• gnomAD v2: X-153295906-C-T
• gnomAD v3: X-154030455-C-T
• gnomAD v4: X-154030455-C-T
• COSMIC: COSM4108015
• MyVariant Identifiers: chrX:g.153295906C>T (hg19) ; chrX:g.154030455C>T (hg38)
• PubMed: PMID:18810657

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030455C>T , CM000685.2:g.154030455C>T	GRCh38
NC_000023.10:g.153295906C>T , CM000685.1:g.153295906C>T	GRCh37
NC_000023.9:g.152949100C>T	NCBI36
NG_007107.2:g.111673G>A
NG_007107.3:g.111649G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1373G>A MANE Plus Clinical	ENSP00000301948.6:p.Arg458His
ENST00000453960.7:c.1409G>A MANE Select	ENSP00000395535.2:p.Arg470His
ENST00000303391.10:c.1373G>A	ENSP00000301948.6:p.Arg458His
ENST00000453960.6:c.1409G>A	ENSP00000395535.2:p.Arg470His
ENST00000619732.4:c.1373G>A	ENSP00000480973.1:p.Arg458His
ENST00000628176.2:c.*745G>A	ENSP00000486978.1:n.*745G>A
NM_001110792.1:c.1409G>A	NP_001104262.1:p.Arg470His
NM_001316337.1:c.1094G>A	NP_001303266.1:p.Arg365His
NM_004992.3:c.1373G>A	NP_004983.1:p.Arg458His
XM_005274681.3:c.1373G>A	XP_005274738.1:p.Arg458His
XM_005274682.3:c.1094G>A	XP_005274739.1:p.Arg365His
XM_005274683.3:c.1094G>A	XP_005274740.1:p.Arg365His
XM_006724819.2:c.704G>A	XP_006724882.1:p.Arg235His
XM_011531166.1:c.1094G>A	XP_011529468.1:p.Arg365His
XM_006724819.3:c.704G>A	XP_006724882.1:p.Arg235His
XM_011531166.2:c.1094G>A	XP_011529468.1:p.Arg365His
XM_024452383.1:c.1094G>A	XP_024308151.1:p.Arg365His
XM_024452384.1:c.1094G>A	XP_024308152.1:p.Arg365His
NM_001110792.2:c.1409G>A MANE Select	NP_001104262.1:p.Arg470His
NM_001316337.2:c.1094G>A	NP_001303266.1:p.Arg365His
NM_001369391.2:c.1094G>A	NP_001356320.1:p.Arg365His
NM_001369392.2:c.1094G>A	NP_001356321.1:p.Arg365His
NM_001369393.2:c.1094G>A	NP_001356322.1:p.Arg365His
NM_001369394.1:c.1094G>A	NP_001356323.1:p.Arg365His
NM_001369394.2:c.1094G>A	NP_001356323.1:p.Arg365His
NM_001386137.1:c.704G>A	NP_001373066.1:p.Arg235His
NM_001386138.1:c.704G>A	NP_001373067.1:p.Arg235His
NM_001386139.1:c.704G>A	NP_001373068.1:p.Arg235His
NM_004992.4:c.1373G>A MANE Plus Clinical	NP_004983.1:p.Arg458His