Canonical Allele Identifier: CA10640949

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 307232
• ClinVar RCV Id: RCV000271962 ; RCV000307246 ; RCV000364128
• dbSNP Id: rs748512308
• gnomAD v2: 12-112944283-C-T
• gnomAD v3: 12-112506479-C-T
• gnomAD v4: 12-112506479-C-T
• MyVariant Identifiers: chr12:g.112944283C>T (hg19) ; chr12:g.112506479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112506479C>T , CM000674.2:g.112506479C>T	GRCh38
NC_000012.11:g.112944283C>T , CM000674.1:g.112944283C>T	GRCh37
NC_000012.10:g.111428666C>T	NCBI36
NG_007459.1:g.92748C>T , LRG_614:g.92748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*630C>T	ENSP00000491593.2:n.*630C>T
ENST00000685487.1:c.*1671C>T	ENSP00000508503.1:n.*1671C>T
ENST00000687120.1:n.4290C>T
ENST00000687906.1:c.*687C>T	ENSP00000509536.1:n.*687C>T
ENST00000688597.1:c.*687C>T	ENSP00000510628.1:n.*687C>T
ENST00000688701.1:n.1713C>T
ENST00000690210.1:c.*687C>T	ENSP00000509272.1:n.*687C>T
ENST00000690472.1:n.1678C>T
ENST00000692624.1:c.*1015C>T	ENSP00000508953.1:n.*1015C>T
ENST00000351677.7:c.*687C>T MANE Select	ENSP00000340944.3:n.*687C>T
ENST00000351677.6:c.*687C>T	ENSP00000340944.2:n.*687C>T
NM_002834.3:c.*687C>T , LRG_614t1:c.*687C>T	NP_002825.3:n.*687C>T
XM_006719526.1:c.*687C>T	XP_006719589.1:n.*687C>T
XM_006719527.1:c.*687C>T	XP_006719590.1:n.*687C>T
XM_011538613.1:c.*687C>T	XP_011536915.1:n.*687C>T
NM_001330437.1:c.*687C>T	NP_001317366.1:n.*687C>T
NM_002834.4:c.*687C>T	NP_002825.3:n.*687C>T
XM_011538613.2:c.*687C>T	XP_011536915.1:n.*687C>T
XM_017019722.1:c.*687C>T	XP_016875211.1:n.*687C>T
NM_001330437.2:c.*687C>T	NP_001317366.1:n.*687C>T
NM_001374625.1:c.*687C>T	NP_001361554.1:n.*687C>T
NM_002834.5:c.*687C>T MANE Select	NP_002825.3:n.*687C>T