Canonical Allele Identifier: CA951925348

Gene: PTPN11

Linked Data

• dbSNP Id: rs2038946644
• gnomAD v3: 12-112507250-G-A
• gnomAD v4: 12-112507250-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507250G>A , CM000674.2:g.112507250G>A	GRCh38
NC_000012.11:g.112945054G>A , CM000674.1:g.112945054G>A	GRCh37
NC_000012.10:g.111429437G>A	NCBI36
NG_007459.1:g.93519G>A , LRG_614:g.93519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*1401G>A	ENSP00000491593.2:n.*1401G>A
ENST00000685487.1:c.*2442G>A	ENSP00000508503.1:n.*2442G>A
ENST00000687120.1:n.5061G>A
ENST00000687906.1:c.*1458G>A	ENSP00000509536.1:n.*1458G>A
ENST00000688597.1:c.*1458G>A	ENSP00000510628.1:n.*1458G>A
ENST00000688701.1:n.2484G>A
ENST00000690210.1:c.*1458G>A	ENSP00000509272.1:n.*1458G>A
ENST00000690472.1:n.2449G>A
ENST00000692624.1:c.*1786G>A	ENSP00000508953.1:n.*1786G>A
ENST00000351677.7:c.*1458G>A MANE Select	ENSP00000340944.3:n.*1458G>A
ENST00000351677.6:c.*1458G>A	ENSP00000340944.2:n.*1458G>A
NM_002834.3:c.*1458G>A , LRG_614t1:c.*1458G>A	NP_002825.3:n.*1458G>A
XM_006719526.1:c.*1458G>A	XP_006719589.1:n.*1458G>A
XM_006719527.1:c.*1458G>A	XP_006719590.1:n.*1458G>A
XM_011538613.1:c.*1458G>A	XP_011536915.1:n.*1458G>A
NM_001330437.1:c.*1458G>A	NP_001317366.1:n.*1458G>A
NM_002834.4:c.*1458G>A	NP_002825.3:n.*1458G>A
XM_011538613.2:c.*1458G>A	XP_011536915.1:n.*1458G>A
XM_017019722.1:c.*1458G>A	XP_016875211.1:n.*1458G>A
NM_001330437.2:c.*1458G>A	NP_001317366.1:n.*1458G>A
NM_001374625.1:c.*1458G>A	NP_001361554.1:n.*1458G>A
NM_002834.5:c.*1458G>A MANE Select	NP_002825.3:n.*1458G>A