Canonical Allele Identifier: CA10636521

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 307247
• ClinVar RCV Id: RCV000269703 ; RCV000334209 ; RCV000370066
• dbSNP Id: rs886048974
• gnomAD v2: 12-112945184-C-G
• gnomAD v3: 12-112507380-C-G
• gnomAD v4: 12-112507380-C-G
• MyVariant Identifiers: chr12:g.112945184C>G (hg19) ; chr12:g.112507380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507380C>G , CM000674.2:g.112507380C>G	GRCh38
NC_000012.11:g.112945184C>G , CM000674.1:g.112945184C>G	GRCh37
NC_000012.10:g.111429567C>G	NCBI36
NG_007459.1:g.93649C>G , LRG_614:g.93649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*1531C>G	ENSP00000491593.2:n.*1531C>G
ENST00000685487.1:c.*2572C>G	ENSP00000508503.1:n.*2572C>G
ENST00000687120.1:n.5191C>G
ENST00000687906.1:c.*1588C>G	ENSP00000509536.1:n.*1588C>G
ENST00000688597.1:c.*1588C>G	ENSP00000510628.1:n.*1588C>G
ENST00000688701.1:n.2614C>G
ENST00000690210.1:c.*1588C>G	ENSP00000509272.1:n.*1588C>G
ENST00000690472.1:n.2579C>G
ENST00000692624.1:c.*1916C>G	ENSP00000508953.1:n.*1916C>G
ENST00000351677.7:c.*1588C>G MANE Select	ENSP00000340944.3:n.*1588C>G
ENST00000351677.6:c.*1588C>G	ENSP00000340944.2:n.*1588C>G
NM_002834.3:c.*1588C>G , LRG_614t1:c.*1588C>G	NP_002825.3:n.*1588C>G
XM_006719526.1:c.*1588C>G	XP_006719589.1:n.*1588C>G
XM_006719527.1:c.*1588C>G	XP_006719590.1:n.*1588C>G
XM_011538613.1:c.*1588C>G	XP_011536915.1:n.*1588C>G
NM_001330437.1:c.*1588C>G	NP_001317366.1:n.*1588C>G
NM_002834.4:c.*1588C>G	NP_002825.3:n.*1588C>G
XM_011538613.2:c.*1588C>G	XP_011536915.1:n.*1588C>G
XM_017019722.1:c.*1588C>G	XP_016875211.1:n.*1588C>G
NM_001330437.2:c.*1588C>G	NP_001317366.1:n.*1588C>G
NM_001374625.1:c.*1588C>G	NP_001361554.1:n.*1588C>G
NM_002834.5:c.*1588C>G MANE Select	NP_002825.3:n.*1588C>G