Canonical Allele Identifier: CA6798793

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 258815
• ClinVar RCV Id: RCV000247441
• dbSNP Id: rs186280715
• ExAC: 12:112926790 G / C
• gnomAD v2: 12-112926790-G-C
• gnomAD v3: 12-112488986-G-C
• gnomAD v4: 12-112488986-G-C
• MyVariant Identifiers: chr12:g.112926790G>C (hg19) ; chr12:g.112488986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488986G>C , CM000674.2:g.112488986G>C	GRCh38
NC_000012.11:g.112926790G>C , CM000674.1:g.112926790G>C	GRCh37
NC_000012.10:g.111411173G>C	NCBI36
NG_007459.1:g.75255G>C , LRG_614:g.75255G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1448-38G>C	ENSP00000491593.2:n.1448-38G>C
ENST00000685487.1:c.1448-38G>C	ENSP00000508503.1:n.1448-38G>C
ENST00000687624.1:n.113-38G>C
ENST00000687906.1:c.1334-38G>C	ENSP00000509536.1:n.1334-38G>C
ENST00000688597.1:c.1224+6781G>C	ENSP00000510628.1:n.1224+6781G>C
ENST00000688701.1:n.692-38G>C
ENST00000690210.1:c.1448-38G>C	ENSP00000509272.1:n.1448-38G>C
ENST00000690472.1:n.657-38G>C
ENST00000692624.1:c.1380-38G>C	ENSP00000508953.1:n.1380-38G>C
ENST00000351677.7:c.1448-38G>C MANE Select	ENSP00000340944.3:n.1448-38G>C
ENST00000351677.6:c.1448-38G>C	ENSP00000340944.2:n.1448-38G>C
ENST00000635625.1:c.1460-38G>C	ENSP00000489597.1:n.1460-38G>C
ENST00000635652.1:c.461-38G>C	ENSP00000489541.1:n.461-38G>C
NM_002834.3:c.1448-38G>C , LRG_614t1:c.1448-38G>C	NP_002825.3:n.1448-38G>C
XM_006719526.1:c.1460-38G>C	XP_006719589.1:n.1460-38G>C
XM_006719527.1:c.1346-38G>C	XP_006719590.1:n.1346-38G>C
XM_011538613.1:c.1457-38G>C	XP_011536915.1:n.1457-38G>C
NM_001330437.1:c.1460-38G>C	NP_001317366.1:n.1460-38G>C
NM_002834.4:c.1448-38G>C	NP_002825.3:n.1448-38G>C
XM_011538613.2:c.1457-38G>C	XP_011536915.1:n.1457-38G>C
XM_017019722.1:c.1445-38G>C	XP_016875211.1:n.1445-38G>C
NM_001330437.2:c.1460-38G>C	NP_001317366.1:n.1460-38G>C
NM_001374625.1:c.1445-38G>C	NP_001361554.1:n.1445-38G>C
NM_002834.5:c.1448-38G>C MANE Select	NP_002825.3:n.1448-38G>C