Canonical Allele Identifier: CA2575298868

Gene: PTPN11

Linked Data

• gnomAD v4: 12-112502069-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112502069G>A , CM000674.2:g.112502069G>A	GRCh38
NC_000012.11:g.112939873G>A , CM000674.1:g.112939873G>A	GRCh37
NC_000012.10:g.111424256G>A	NCBI36
NG_007459.1:g.88338G>A , LRG_614:g.88338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1600-75G>A	ENSP00000491593.2:n.1600-75G>A
ENST00000685487.1:c.*802-75G>A	ENSP00000508503.1:n.*802-75G>A
ENST00000687120.1:n.908G>A
ENST00000687906.1:c.1486-75G>A	ENSP00000509536.1:n.1486-75G>A
ENST00000688597.1:c.1225-75G>A	ENSP00000510628.1:n.1225-75G>A
ENST00000688701.1:n.844-75G>A
ENST00000690210.1:c.1600-75G>A	ENSP00000509272.1:n.1600-75G>A
ENST00000690472.1:n.809-75G>A
ENST00000692624.1:c.*146-75G>A	ENSP00000508953.1:n.*146-75G>A
ENST00000351677.7:c.1600-75G>A MANE Select	ENSP00000340944.3:n.1600-75G>A
ENST00000351677.6:c.1600-75G>A	ENSP00000340944.2:n.1600-75G>A
ENST00000635625.1:c.1612-75G>A	ENSP00000489597.1:n.1612-75G>A
NM_002834.3:c.1600-75G>A , LRG_614t1:c.1600-75G>A	NP_002825.3:n.1600-75G>A
XM_006719526.1:c.1612-75G>A	XP_006719589.1:n.1612-75G>A
XM_006719527.1:c.1498-75G>A	XP_006719590.1:n.1498-75G>A
XM_011538613.1:c.1609-75G>A	XP_011536915.1:n.1609-75G>A
NM_001330437.1:c.1612-75G>A	NP_001317366.1:n.1612-75G>A
NM_002834.4:c.1600-75G>A	NP_002825.3:n.1600-75G>A
XM_011538613.2:c.1609-75G>A	XP_011536915.1:n.1609-75G>A
XM_017019722.1:c.1597-75G>A	XP_016875211.1:n.1597-75G>A
NM_001330437.2:c.1612-75G>A	NP_001317366.1:n.1612-75G>A
NM_001374625.1:c.1597-75G>A	NP_001361554.1:n.1597-75G>A
NM_002834.5:c.1600-75G>A MANE Select	NP_002825.3:n.1600-75G>A