Canonical Allele Identifier: CA2573159374

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1691859
• ClinVar RCV Id: RCV002255242
• dbSNP Id: rs2148658938

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030530_154031056del , CM000685.2:g.154030530_154031056del	GRCh38
NC_000023.10:g.153295981_153296507del , CM000685.1:g.153295981_153296507del	GRCh37
NC_000023.9:g.152949175_152949701del	NCBI36
NG_007107.2:g.111072_111598del
NG_007107.3:g.111048_111574del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.772_1298del MANE Plus Clinical	ENSP00000301948.6:p.Glu258SerfsTer2
ENST00000453960.7:c.808_1334del MANE Select	ENSP00000395535.2:p.Glu270SerfsTer2
ENST00000303391.10:c.772_1298del	ENSP00000301948.6:p.Glu258SerfsTer2
ENST00000453960.6:c.808_1334del	ENSP00000395535.2:p.Glu270SerfsTer2
ENST00000619732.4:c.772_1298del	ENSP00000480973.1:p.Glu258SerfsTer2
ENST00000628176.2:c.*144_*670del	ENSP00000486978.1:n.*144_*670del
NM_001110792.1:c.808_1334del	NP_001104262.1:p.Glu270SerfsTer2
NM_001316337.1:c.493_1019del	NP_001303266.1:p.Glu165SerfsTer2
NM_004992.3:c.772_1298del	NP_004983.1:p.Glu258SerfsTer2
XM_005274681.3:c.772_1298del	XP_005274738.1:p.Glu258SerfsTer2
XM_005274682.3:c.493_1019del	XP_005274739.1:p.Glu165SerfsTer2
XM_005274683.3:c.493_1019del	XP_005274740.1:p.Glu165SerfsTer2
XM_006724819.2:c.103_629del	XP_006724882.1:p.Glu35SerfsTer2
XM_011531166.1:c.493_1019del	XP_011529468.1:p.Glu165SerfsTer2
XM_006724819.3:c.103_629del	XP_006724882.1:p.Glu35SerfsTer2
XM_011531166.2:c.493_1019del	XP_011529468.1:p.Glu165SerfsTer2
XM_024452383.1:c.493_1019del	XP_024308151.1:p.Glu165SerfsTer2
XM_024452384.1:c.493_1019del	XP_024308152.1:p.Glu165SerfsTer2
NM_001110792.2:c.808_1334del MANE Select	NP_001104262.1:p.Glu270SerfsTer2
NM_001316337.2:c.493_1019del	NP_001303266.1:p.Glu165SerfsTer2
NM_001369391.2:c.493_1019del	NP_001356320.1:p.Glu165SerfsTer2
NM_001369392.2:c.493_1019del	NP_001356321.1:p.Glu165SerfsTer2
NM_001369393.2:c.493_1019del	NP_001356322.1:p.Glu165SerfsTer2
NM_001369394.1:c.493_1019del	NP_001356323.1:p.Glu165SerfsTer2
NM_001369394.2:c.493_1019del	NP_001356323.1:p.Glu165SerfsTer2
NM_001386137.1:c.103_629del	NP_001373066.1:p.Glu35SerfsTer2
NM_001386138.1:c.103_629del	NP_001373067.1:p.Glu35SerfsTer2
NM_001386139.1:c.103_629del	NP_001373068.1:p.Glu35SerfsTer2
NM_004992.4:c.772_1298del MANE Plus Clinical	NP_004983.1:p.Glu258SerfsTer2