Canonical Allele Identifier: CA2727239120
Gene: PTPN11 HGNC NCBI

Linked Data

dbSNP Id: rs2135915876

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112488981G>T , CM000674.2:g.112488981G>T GRCh38
NC_000012.11:g.112926785G>T , CM000674.1:g.112926785G>T GRCh37
NC_000012.10:g.111411168G>T NCBI36
NG_007459.1:g.75250G>T , LRG_614:g.75250G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000639857.2:c.1448-43G>T ENSP00000491593.2:n.1448-43G>T
ENST00000685487.1:c.1448-43G>T ENSP00000508503.1:n.1448-43G>T
ENST00000687624.1:n.113-43G>T
ENST00000687906.1:c.1334-43G>T ENSP00000509536.1:n.1334-43G>T
ENST00000688597.1:c.1224+6776G>T ENSP00000510628.1:n.1224+6776G>T
ENST00000688701.1:n.692-43G>T
ENST00000690210.1:c.1448-43G>T ENSP00000509272.1:n.1448-43G>T
ENST00000690472.1:n.657-43G>T
ENST00000692624.1:c.1380-43G>T ENSP00000508953.1:n.1380-43G>T
ENST00000351677.7:c.1448-43G>T MANE Select ENSP00000340944.3:n.1448-43G>T
ENST00000351677.6:c.1448-43G>T ENSP00000340944.2:n.1448-43G>T
ENST00000635625.1:c.1460-43G>T ENSP00000489597.1:n.1460-43G>T
ENST00000635652.1:c.461-43G>T ENSP00000489541.1:n.461-43G>T
NM_002834.3:c.1448-43G>T , LRG_614t1:c.1448-43G>T NP_002825.3:n.1448-43G>T
XM_006719526.1:c.1460-43G>T XP_006719589.1:n.1460-43G>T
XM_006719527.1:c.1346-43G>T XP_006719590.1:n.1346-43G>T
XM_011538613.1:c.1457-43G>T XP_011536915.1:n.1457-43G>T
NM_001330437.1:c.1460-43G>T NP_001317366.1:n.1460-43G>T
NM_002834.4:c.1448-43G>T NP_002825.3:n.1448-43G>T
XM_011538613.2:c.1457-43G>T XP_011536915.1:n.1457-43G>T
XM_017019722.1:c.1445-43G>T XP_016875211.1:n.1445-43G>T
NM_001330437.2:c.1460-43G>T NP_001317366.1:n.1460-43G>T
NM_001374625.1:c.1445-43G>T NP_001361554.1:n.1445-43G>T
NM_002834.5:c.1448-43G>T MANE Select NP_002825.3:n.1448-43G>T