Canonical Allele Identifier: CA10636520

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 307245
• ClinVar RCV Id: RCV000299094 ; RCV000356281 ; RCV000390936
• dbSNP Id: rs371375321
• gnomAD v2: 12-112945132-T-C
• gnomAD v3: 12-112507328-T-C
• gnomAD v4: 12-112507328-T-C
• MyVariant Identifiers: chr12:g.112945132T>C (hg19) ; chr12:g.112507328T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507328T>C , CM000674.2:g.112507328T>C	GRCh38
NC_000012.11:g.112945132T>C , CM000674.1:g.112945132T>C	GRCh37
NC_000012.10:g.111429515T>C	NCBI36
NG_007459.1:g.93597T>C , LRG_614:g.93597T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.*1479T>C	ENSP00000491593.2:n.*1479T>C
ENST00000685487.1:c.*2520T>C	ENSP00000508503.1:n.*2520T>C
ENST00000687120.1:n.5139T>C
ENST00000687906.1:c.*1536T>C	ENSP00000509536.1:n.*1536T>C
ENST00000688597.1:c.*1536T>C	ENSP00000510628.1:n.*1536T>C
ENST00000688701.1:n.2562T>C
ENST00000690210.1:c.*1536T>C	ENSP00000509272.1:n.*1536T>C
ENST00000690472.1:n.2527T>C
ENST00000692624.1:c.*1864T>C	ENSP00000508953.1:n.*1864T>C
ENST00000351677.7:c.*1536T>C MANE Select	ENSP00000340944.3:n.*1536T>C
ENST00000351677.6:c.*1536T>C	ENSP00000340944.2:n.*1536T>C
NM_002834.3:c.*1536T>C , LRG_614t1:c.*1536T>C	NP_002825.3:n.*1536T>C
XM_006719526.1:c.*1536T>C	XP_006719589.1:n.*1536T>C
XM_006719527.1:c.*1536T>C	XP_006719590.1:n.*1536T>C
XM_011538613.1:c.*1536T>C	XP_011536915.1:n.*1536T>C
NM_001330437.1:c.*1536T>C	NP_001317366.1:n.*1536T>C
NM_002834.4:c.*1536T>C	NP_002825.3:n.*1536T>C
XM_011538613.2:c.*1536T>C	XP_011536915.1:n.*1536T>C
XM_017019722.1:c.*1536T>C	XP_016875211.1:n.*1536T>C
NM_001330437.2:c.*1536T>C	NP_001317366.1:n.*1536T>C
NM_001374625.1:c.*1536T>C	NP_001361554.1:n.*1536T>C
NM_002834.5:c.*1536T>C MANE Select	NP_002825.3:n.*1536T>C