Canonical Allele Identifier: CA273454

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40556
• ClinVar RCV Id: RCV000033542 ; RCV000212898 ; RCV001731329
• dbSNP Id: rs121918458
• COSMIC: COSM20901
• MyVariant Identifiers: chr12:g.112926884T>G (hg19) ; chr12:g.112489080T>G (hg38)
• PubMed: PMID:15842656 ; PMID:15928039 ; PMID:16115145 ; PMID:16358218 ; PMID:17910045 ; PMID:18470943 ; PMID:19020799 ; PMID:23832011

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489080T>G , CM000674.2:g.112489080T>G	GRCh38
NC_000012.11:g.112926884T>G , CM000674.1:g.112926884T>G	GRCh37
NC_000012.10:g.111411267T>G	NCBI36
NG_007459.1:g.75349T>G , LRG_614:g.75349T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1504T>G	ENSP00000491593.2:p.Ser502Ala
ENST00000685487.1:c.1504T>G	ENSP00000508503.1:p.Ser502Ala
ENST00000687624.1:n.169T>G
ENST00000687906.1:c.1390T>G	ENSP00000509536.1:p.Ser464Ala
ENST00000688597.1:c.1224+6875T>G	ENSP00000510628.1:n.1224+6875T>G
ENST00000688701.1:n.748T>G
ENST00000690210.1:c.1504T>G	ENSP00000509272.1:p.Ser502Ala
ENST00000690472.1:n.713T>G
ENST00000692624.1:c.*50T>G	ENSP00000508953.1:n.*50T>G
ENST00000351677.7:c.1504T>G MANE Select	ENSP00000340944.3:p.Ser502Ala
ENST00000351677.6:c.1504T>G	ENSP00000340944.2:p.Ser502Ala
ENST00000635625.1:c.1516T>G	ENSP00000489597.1:p.Ser506Ala
ENST00000635652.1:c.517T>G	ENSP00000489541.1:p.Ser173Ala
NM_002834.3:c.1504T>G , LRG_614t1:c.1504T>G	NP_002825.3:p.Ser502Ala
XM_006719526.1:c.1516T>G	XP_006719589.1:p.Ser506Ala
XM_006719527.1:c.1402T>G	XP_006719590.1:p.Ser468Ala
XM_011538613.1:c.1513T>G	XP_011536915.1:p.Ser505Ala
NM_001330437.1:c.1516T>G	NP_001317366.1:p.Ser506Ala
NM_002834.4:c.1504T>G	NP_002825.3:p.Ser502Ala
XM_011538613.2:c.1513T>G	XP_011536915.1:p.Ser505Ala
XM_017019722.1:c.1501T>G	XP_016875211.1:p.Ser501Ala
NM_001330437.2:c.1516T>G	NP_001317366.1:p.Ser506Ala
NM_001374625.1:c.1501T>G	NP_001361554.1:p.Ser501Ala
NM_002834.5:c.1504T>G MANE Select	NP_002825.3:p.Ser502Ala