Canonical Allele Identifier: CA15053496
Gene: MECP2 HGNC NCBI

Linked Data

dbSNP Id: rs2734647
gnomAD v2: X-153292180-T-C
gnomAD v3: X-154026729-T-C
gnomAD v4: X-154026729-T-C
MyVariant Identifiers: chrX:g.153292180T>C (hg19) chrX:g.154026729T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154026729T>C , CM000685.2:g.154026729T>C GRCh38
NC_000023.10:g.153292180T>C , CM000685.1:g.153292180T>C GRCh37
NC_000023.9:g.152945374T>C NCBI36
NG_007107.2:g.115399A>G
NG_007107.3:g.115375A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.*3638A>G MANE Plus Clinical ENSP00000301948.6:n.*3638A>G
ENST00000453960.7:c.*3638A>G MANE Select ENSP00000395535.2:n.*3638A>G
ENST00000303391.10:c.*3638A>G ENSP00000301948.6:n.*3638A>G
ENST00000619732.4:c.*3565A>G ENSP00000480973.1:n.*3565A>G
NM_004992.3:c.*3638A>G NP_004983.1:n.*3638A>G
XM_006724819.3:c.*3638A>G XP_006724882.1:n.*3638A>G
XM_011531166.2:c.*3638A>G XP_011529468.1:n.*3638A>G
XM_024452383.1:c.*3638A>G XP_024308151.1:n.*3638A>G
XM_024452384.1:c.*3638A>G XP_024308152.1:n.*3638A>G
NM_001110792.2:c.*3638A>G MANE Select NP_001104262.1:n.*3638A>G
NM_001316337.2:c.*3638A>G NP_001303266.1:n.*3638A>G
NM_001369391.2:c.*3638A>G NP_001356320.1:n.*3638A>G
NM_001369392.2:c.*3638A>G NP_001356321.1:n.*3638A>G
NM_001369393.2:c.*3638A>G NP_001356322.1:n.*3638A>G
NM_001369394.2:c.*3638A>G NP_001356323.1:n.*3638A>G
NM_001386137.1:c.*3638A>G NP_001373066.1:n.*3638A>G
NM_001386138.1:c.*3638A>G NP_001373067.1:n.*3638A>G
NM_001386139.1:c.*3638A>G NP_001373068.1:n.*3638A>G
NM_004992.4:c.*3638A>G MANE Plus Clinical NP_004983.1:n.*3638A>G
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