Canonical Allele Identifier: CA2063741429
Gene: PTPN11 HGNC NCBI

Linked Data

dbSNP Id: rs2038718335

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489323A>G , CM000674.2:g.112489323A>G GRCh38
NC_000012.11:g.112927127A>G , CM000674.1:g.112927127A>G GRCh37
NC_000012.10:g.111411510A>G NCBI36
NG_007459.1:g.75592A>G , LRG_614:g.75592A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1599+148A>G ENSP00000491593.2:n.1599+148A>G
ENST00000685487.1:c.*136A>G ENSP00000508503.1:n.*136A>G
ENST00000687624.1:n.412A>G
ENST00000687906.1:c.1485+148A>G ENSP00000509536.1:n.1485+148A>G
ENST00000688597.1:c.1224+7118A>G ENSP00000510628.1:n.1224+7118A>G
ENST00000688701.1:n.843+148A>G
ENST00000690210.1:c.1599+148A>G ENSP00000509272.1:n.1599+148A>G
ENST00000690472.1:n.808+148A>G
ENST00000692624.1:c.*145+148A>G ENSP00000508953.1:n.*145+148A>G
ENST00000351677.7:c.1599+148A>G MANE Select ENSP00000340944.3:n.1599+148A>G
ENST00000351677.6:c.1599+148A>G ENSP00000340944.2:n.1599+148A>G
ENST00000635625.1:c.1611+148A>G ENSP00000489597.1:n.1611+148A>G
NM_002834.3:c.1599+148A>G , LRG_614t1:c.1599+148A>G NP_002825.3:n.1599+148A>G
XM_006719526.1:c.1611+148A>G XP_006719589.1:n.1611+148A>G
XM_006719527.1:c.1497+148A>G XP_006719590.1:n.1497+148A>G
XM_011538613.1:c.1608+148A>G XP_011536915.1:n.1608+148A>G
NM_001330437.1:c.1611+148A>G NP_001317366.1:n.1611+148A>G
NM_002834.4:c.1599+148A>G NP_002825.3:n.1599+148A>G
XM_011538613.2:c.1608+148A>G XP_011536915.1:n.1608+148A>G
XM_017019722.1:c.1596+148A>G XP_016875211.1:n.1596+148A>G
NM_001330437.2:c.1611+148A>G NP_001317366.1:n.1611+148A>G
NM_001374625.1:c.1596+148A>G NP_001361554.1:n.1596+148A>G
NM_002834.5:c.1599+148A>G MANE Select NP_002825.3:n.1599+148A>G