Canonical Allele Identifier: CA10636514

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 307228
• ClinVar RCV Id: RCV000264960 ; RCV000322269 ; RCV000379260 ; RCV003311745
• dbSNP Id: rs192080780
• gnomAD v2: 12-112943921-G-A
• gnomAD v3: 12-112506117-G-A
• gnomAD v4: 12-112506117-G-A
• MyVariant Identifiers: chr12:g.112943921G>A (hg19) ; chr12:g.112506117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112506117G>A , CM000674.2:g.112506117G>A	GRCh38
NC_000012.11:g.112943921G>A , CM000674.1:g.112943921G>A	GRCh37
NC_000012.10:g.111428304G>A	NCBI36
NG_007459.1:g.92386G>A , LRG_614:g.92386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*268G>A	ENSP00000491593.2:n.*268G>A
ENST00000685487.1:c.*1309G>A	ENSP00000508503.1:n.*1309G>A
ENST00000687120.1:n.3928G>A
ENST00000687906.1:c.*325G>A	ENSP00000509536.1:n.*325G>A
ENST00000688597.1:c.*325G>A	ENSP00000510628.1:n.*325G>A
ENST00000688701.1:n.1351G>A
ENST00000690210.1:c.*325G>A	ENSP00000509272.1:n.*325G>A
ENST00000690472.1:n.1316G>A
ENST00000692624.1:c.*653G>A	ENSP00000508953.1:n.*653G>A
ENST00000351677.7:c.*325G>A MANE Select	ENSP00000340944.3:n.*325G>A
ENST00000351677.6:c.*325G>A	ENSP00000340944.2:n.*325G>A
NM_002834.3:c.*325G>A , LRG_614t1:c.*325G>A	NP_002825.3:n.*325G>A
XM_006719526.1:c.*325G>A	XP_006719589.1:n.*325G>A
XM_006719527.1:c.*325G>A	XP_006719590.1:n.*325G>A
XM_011538613.1:c.*325G>A	XP_011536915.1:n.*325G>A
NM_001330437.1:c.*325G>A	NP_001317366.1:n.*325G>A
NM_002834.4:c.*325G>A	NP_002825.3:n.*325G>A
XM_011538613.2:c.*325G>A	XP_011536915.1:n.*325G>A
XM_017019722.1:c.*325G>A	XP_016875211.1:n.*325G>A
NM_001330437.2:c.*325G>A	NP_001317366.1:n.*325G>A
NM_001374625.1:c.*325G>A	NP_001361554.1:n.*325G>A
NM_002834.5:c.*325G>A MANE Select	NP_002825.3:n.*325G>A