Canonical Allele Identifier: CA386779802

Gene: PTPN11

Linked Data

• dbSNP Id: rs397507541
• gnomAD v4: 12-112489068-C-G
• MyVariant Identifiers: chr12:g.112926872C>G (hg19) ; chr12:g.112489068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489068C>G , CM000674.2:g.112489068C>G	GRCh38
NC_000012.11:g.112926872C>G , CM000674.1:g.112926872C>G	GRCh37
NC_000012.10:g.111411255C>G	NCBI36
NG_007459.1:g.75337C>G , LRG_614:g.75337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1492C>G	ENSP00000491593.2:p.Arg498Gly
ENST00000685487.1:c.1492C>G	ENSP00000508503.1:p.Arg498Gly
ENST00000687624.1:n.157C>G
ENST00000687906.1:c.1378C>G	ENSP00000509536.1:p.Arg460Gly
ENST00000688597.1:c.1224+6863C>G	ENSP00000510628.1:n.1224+6863C>G
ENST00000688701.1:n.736C>G
ENST00000690210.1:c.1492C>G	ENSP00000509272.1:p.Arg498Gly
ENST00000690472.1:n.701C>G
ENST00000692624.1:c.*38C>G	ENSP00000508953.1:n.*38C>G
ENST00000351677.7:c.1492C>G MANE Select	ENSP00000340944.3:p.Arg498Gly
ENST00000351677.6:c.1492C>G	ENSP00000340944.2:p.Arg498Gly
ENST00000635625.1:c.1504C>G	ENSP00000489597.1:p.Arg502Gly
ENST00000635652.1:c.505C>G	ENSP00000489541.1:p.Arg169Gly
NM_002834.3:c.1492C>G , LRG_614t1:c.1492C>G	NP_002825.3:p.Arg498Gly
XM_006719526.1:c.1504C>G	XP_006719589.1:p.Arg502Gly
XM_006719527.1:c.1390C>G	XP_006719590.1:p.Arg464Gly
XM_011538613.1:c.1501C>G	XP_011536915.1:p.Arg501Gly
NM_001330437.1:c.1504C>G	NP_001317366.1:p.Arg502Gly
NM_002834.4:c.1492C>G	NP_002825.3:p.Arg498Gly
XM_011538613.2:c.1501C>G	XP_011536915.1:p.Arg501Gly
XM_017019722.1:c.1489C>G	XP_016875211.1:p.Arg497Gly
NM_001330437.2:c.1504C>G	NP_001317366.1:p.Arg502Gly
NM_001374625.1:c.1489C>G	NP_001361554.1:p.Arg497Gly
NM_002834.5:c.1492C>G MANE Select	NP_002825.3:p.Arg498Gly