Canonical Allele Identifier: CA2063741410
Gene: PTPN11 HGNC NCBI

Linked Data

dbSNP Id: rs2038718035

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489302C>G , CM000674.2:g.112489302C>G GRCh38
NC_000012.11:g.112927106C>G , CM000674.1:g.112927106C>G GRCh37
NC_000012.10:g.111411489C>G NCBI36
NG_007459.1:g.75571C>G , LRG_614:g.75571C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1599+127C>G ENSP00000491593.2:n.1599+127C>G
ENST00000685487.1:c.*115C>G ENSP00000508503.1:n.*115C>G
ENST00000687624.1:n.391C>G
ENST00000687906.1:c.1485+127C>G ENSP00000509536.1:n.1485+127C>G
ENST00000688597.1:c.1224+7097C>G ENSP00000510628.1:n.1224+7097C>G
ENST00000688701.1:n.843+127C>G
ENST00000690210.1:c.1599+127C>G ENSP00000509272.1:n.1599+127C>G
ENST00000690472.1:n.808+127C>G
ENST00000692624.1:c.*145+127C>G ENSP00000508953.1:n.*145+127C>G
ENST00000351677.7:c.1599+127C>G MANE Select ENSP00000340944.3:n.1599+127C>G
ENST00000351677.6:c.1599+127C>G ENSP00000340944.2:n.1599+127C>G
ENST00000635625.1:c.1611+127C>G ENSP00000489597.1:n.1611+127C>G
NM_002834.3:c.1599+127C>G , LRG_614t1:c.1599+127C>G NP_002825.3:n.1599+127C>G
XM_006719526.1:c.1611+127C>G XP_006719589.1:n.1611+127C>G
XM_006719527.1:c.1497+127C>G XP_006719590.1:n.1497+127C>G
XM_011538613.1:c.1608+127C>G XP_011536915.1:n.1608+127C>G
NM_001330437.1:c.1611+127C>G NP_001317366.1:n.1611+127C>G
NM_002834.4:c.1599+127C>G NP_002825.3:n.1599+127C>G
XM_011538613.2:c.1608+127C>G XP_011536915.1:n.1608+127C>G
XM_017019722.1:c.1596+127C>G XP_016875211.1:n.1596+127C>G
NM_001330437.2:c.1611+127C>G NP_001317366.1:n.1611+127C>G
NM_001374625.1:c.1596+127C>G NP_001361554.1:n.1596+127C>G
NM_002834.5:c.1599+127C>G MANE Select NP_002825.3:n.1599+127C>G