Canonical Allele Identifier: CA481882304

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 2142742
• ClinVar RCV Id: RCV003076385
• dbSNP Id: rs1224623106
• gnomAD v2: 12-112891008-T-C
• gnomAD v3: 12-112453204-T-C
• gnomAD v4: 12-112453204-T-C
• COSMIC: COSM1358891
• MyVariant Identifiers: chr12:g.112891008T>C (hg19) ; chr12:g.112453204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112453204T>C , CM000674.2:g.112453204T>C	GRCh38
NC_000012.11:g.112891008T>C , CM000674.1:g.112891008T>C	GRCh37
NC_000012.10:g.111375391T>C	NCBI36
NG_007459.1:g.39473T>C , LRG_614:g.39473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.342T>C	ENSP00000491593.2:p.His114=
ENST00000685487.1:c.342T>C	ENSP00000508503.1:p.His114=
ENST00000687906.1:c.342T>C	ENSP00000509536.1:p.His114=
ENST00000688597.1:c.342T>C	ENSP00000510628.1:p.His114=
ENST00000690210.1:c.342T>C	ENSP00000509272.1:p.His114=
ENST00000692624.1:c.342T>C	ENSP00000508953.1:p.His114=
ENST00000351677.7:c.342T>C MANE Select	ENSP00000340944.3:p.His114=
ENST00000639857.1:c.342T>C	ENSP00000491593.1:p.His114=
ENST00000351677.6:c.342T>C	ENSP00000340944.2:p.His114=
ENST00000392597.5:c.342T>C	ENSP00000376376.1:p.His114=
ENST00000635625.1:c.342T>C	ENSP00000489597.1:p.His114=
NM_002834.3:c.342T>C , LRG_614t1:c.342T>C	NP_002825.3:p.His114=
NM_080601.1:c.342T>C	NP_542168.1:p.His114=
XM_006719526.1:c.342T>C	XP_006719589.1:p.His114=
XM_006719527.1:c.342T>C	XP_006719590.1:p.His114=
XM_011538613.1:c.339T>C	XP_011536915.1:p.His113=
NM_001330437.1:c.342T>C	NP_001317366.1:p.His114=
NM_002834.4:c.342T>C	NP_002825.3:p.His114=
NM_080601.2:c.342T>C	NP_542168.1:p.His114=
XM_011538613.2:c.339T>C	XP_011536915.1:p.His113=
XM_017019722.1:c.339T>C	XP_016875211.1:p.His113=
NM_001330437.2:c.342T>C	NP_001317366.1:p.His114=
NM_001374625.1:c.339T>C	NP_001361554.1:p.His113=
NM_002834.5:c.342T>C MANE Select	NP_002825.3:p.His114=
NM_080601.3:c.342T>C	NP_542168.1:p.His114=