Canonical Allele Identifier: CA234749

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 13329
• ClinVar RCV Id: RCV001266750 ; RCV001813195 ; RCV002408460 ; RCV003398503
• dbSNP Id: rs121918460
• COSMIC: COSM5945276
• MyVariant Identifiers: chr12:g.112888168T>G (hg19) ; chr12:g.112450364T>G (hg38)
• ERepo: CA234749/MONDO:0021060/004
• PubMed: PMID:11992261 ; PMID:12325025 ; PMID:12717436 ; PMID:12960218 ; PMID:15539800 ; PMID:15604238 ; PMID:15928039 ; PMID:16263833 ; PMID:16358218 ; PMID:17020470 ; PMID:17339163 ; PMID:19077116 ; PMID:19352411 ; PMID:22711529 ; PMID:23891399 ; PMID:28135719 ; PMID:29555671

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450364T>G , CM000674.2:g.112450364T>G	GRCh38
NC_000012.11:g.112888168T>G , CM000674.1:g.112888168T>G	GRCh37
NC_000012.10:g.111372551T>G	NCBI36
NG_007459.1:g.36633T>G , LRG_614:g.36633T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.184T>G	ENSP00000491593.2:p.Tyr62Asp
ENST00000685487.1:c.184T>G	ENSP00000508503.1:p.Tyr62Asp
ENST00000687906.1:c.184T>G	ENSP00000509536.1:p.Tyr62Asp
ENST00000688597.1:c.184T>G	ENSP00000510628.1:p.Tyr62Asp
ENST00000690210.1:c.184T>G	ENSP00000509272.1:p.Tyr62Asp
ENST00000692624.1:c.184T>G	ENSP00000508953.1:p.Tyr62Asp
ENST00000351677.7:c.184T>G MANE Select	ENSP00000340944.3:p.Tyr62Asp
ENST00000639857.1:c.184T>G	ENSP00000491593.1:p.Tyr62Asp
ENST00000351677.6:c.184T>G	ENSP00000340944.2:p.Tyr62Asp
ENST00000392597.5:c.184T>G	ENSP00000376376.1:p.Tyr62Asp
ENST00000635625.1:c.184T>G	ENSP00000489597.1:p.Tyr62Asp
NM_002834.3:c.184T>G , LRG_614t1:c.184T>G	NP_002825.3:p.Tyr62Asp
NM_080601.1:c.184T>G	NP_542168.1:p.Tyr62Asp
XM_006719526.1:c.184T>G	XP_006719589.1:p.Tyr62Asp
XM_006719527.1:c.184T>G	XP_006719590.1:p.Tyr62Asp
XM_011538613.1:c.181T>G	XP_011536915.1:p.Tyr61Asp
NM_001330437.1:c.184T>G	NP_001317366.1:p.Tyr62Asp
NM_002834.4:c.184T>G	NP_002825.3:p.Tyr62Asp
NM_080601.2:c.184T>G	NP_542168.1:p.Tyr62Asp
XM_011538613.2:c.181T>G	XP_011536915.1:p.Tyr61Asp
XM_017019722.1:c.181T>G	XP_016875211.1:p.Tyr61Asp
NM_001330437.2:c.184T>G	NP_001317366.1:p.Tyr62Asp
NM_001374625.1:c.181T>G	NP_001361554.1:p.Tyr61Asp
NM_002834.5:c.184T>G MANE Select	NP_002825.3:p.Tyr62Asp
NM_080601.3:c.184T>G	NP_542168.1:p.Tyr62Asp