Canonical Allele Identifier: CA873290235

Gene: MECP2

Linked Data

• dbSNP Id: rs1165528812
• MyVariant Identifiers: chrX:g.154027998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154027998A>G , CM000685.2:g.154027998A>G	GRCh38
NC_000023.10:g.153293449A>G , CM000685.1:g.153293449A>G	GRCh37
NC_000023.9:g.152946643A>G	NCBI36
NG_007107.2:g.114130T>C
NG_007107.3:g.114106T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.*2369T>C MANE Plus Clinical	ENSP00000301948.6:n.*2369T>C
ENST00000453960.7:c.*2369T>C MANE Select	ENSP00000395535.2:n.*2369T>C
ENST00000303391.10:c.*2369T>C	ENSP00000301948.6:n.*2369T>C
ENST00000619732.4:c.*2296T>C	ENSP00000480973.1:n.*2296T>C
NM_004992.3:c.*2369T>C	NP_004983.1:n.*2369T>C
XM_006724819.3:c.*2369T>C	XP_006724882.1:n.*2369T>C
XM_011531166.2:c.*2369T>C	XP_011529468.1:n.*2369T>C
XM_024452383.1:c.*2369T>C	XP_024308151.1:n.*2369T>C
XM_024452384.1:c.*2369T>C	XP_024308152.1:n.*2369T>C
NM_001110792.2:c.*2369T>C MANE Select	NP_001104262.1:n.*2369T>C
NM_001316337.2:c.*2369T>C	NP_001303266.1:n.*2369T>C
NM_001369391.2:c.*2369T>C	NP_001356320.1:n.*2369T>C
NM_001369392.2:c.*2369T>C	NP_001356321.1:n.*2369T>C
NM_001369393.2:c.*2369T>C	NP_001356322.1:n.*2369T>C
NM_001369394.2:c.*2369T>C	NP_001356323.1:n.*2369T>C
NM_001386137.1:c.*2369T>C	NP_001373066.1:n.*2369T>C
NM_001386138.1:c.*2369T>C	NP_001373067.1:n.*2369T>C
NM_001386139.1:c.*2369T>C	NP_001373068.1:n.*2369T>C
NM_004992.4:c.*2369T>C MANE Plus Clinical	NP_004983.1:n.*2369T>C