Canonical Allele Identifier: CA2602701822

Gene: PTPN11

Linked Data

• dbSNP Id: rs560670470
• gnomAD v3: 12-112489357-T-A
• gnomAD v4: 12-112489357-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489357T>A , CM000674.2:g.112489357T>A	GRCh38
NC_000012.11:g.112927161T>A , CM000674.1:g.112927161T>A	GRCh37
NC_000012.10:g.111411544T>A	NCBI36
NG_007459.1:g.75626T>A , LRG_614:g.75626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+182T>A	ENSP00000491593.2:n.1599+182T>A
ENST00000685487.1:c.*170T>A	ENSP00000508503.1:n.*170T>A
ENST00000687624.1:n.446T>A
ENST00000687906.1:c.1485+182T>A	ENSP00000509536.1:n.1485+182T>A
ENST00000688597.1:c.1224+7152T>A	ENSP00000510628.1:n.1224+7152T>A
ENST00000688701.1:n.843+182T>A
ENST00000690210.1:c.1599+182T>A	ENSP00000509272.1:n.1599+182T>A
ENST00000690472.1:n.808+182T>A
ENST00000692624.1:c.*145+182T>A	ENSP00000508953.1:n.*145+182T>A
ENST00000351677.7:c.1599+182T>A MANE Select	ENSP00000340944.3:n.1599+182T>A
ENST00000351677.6:c.1599+182T>A	ENSP00000340944.2:n.1599+182T>A
ENST00000635625.1:c.1611+182T>A	ENSP00000489597.1:n.1611+182T>A
NM_002834.3:c.1599+182T>A , LRG_614t1:c.1599+182T>A	NP_002825.3:n.1599+182T>A
XM_006719526.1:c.1611+182T>A	XP_006719589.1:n.1611+182T>A
XM_006719527.1:c.1497+182T>A	XP_006719590.1:n.1497+182T>A
XM_011538613.1:c.1608+182T>A	XP_011536915.1:n.1608+182T>A
NM_001330437.1:c.1611+182T>A	NP_001317366.1:n.1611+182T>A
NM_002834.4:c.1599+182T>A	NP_002825.3:n.1599+182T>A
XM_011538613.2:c.1608+182T>A	XP_011536915.1:n.1608+182T>A
XM_017019722.1:c.1596+182T>A	XP_016875211.1:n.1596+182T>A
NM_001330437.2:c.1611+182T>A	NP_001317366.1:n.1611+182T>A
NM_001374625.1:c.1596+182T>A	NP_001361554.1:n.1596+182T>A
NM_002834.5:c.1599+182T>A MANE Select	NP_002825.3:n.1599+182T>A