Canonical Allele Identifier: CA243714742

Gene: PTPN11

Linked Data

• dbSNP Id: rs977693831
• gnomAD v2: 12-112927031-T-C
• gnomAD v3: 12-112489227-T-C
• gnomAD v4: 12-112489227-T-C
• MyVariant Identifiers: chr12:g.112927031T>C (hg19) ; chr12:g.112489227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489227T>C , CM000674.2:g.112489227T>C	GRCh38
NC_000012.11:g.112927031T>C , CM000674.1:g.112927031T>C	GRCh37
NC_000012.10:g.111411414T>C	NCBI36
NG_007459.1:g.75496T>C , LRG_614:g.75496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+52T>C	ENSP00000491593.2:n.1599+52T>C
ENST00000685487.1:c.*40T>C	ENSP00000508503.1:n.*40T>C
ENST00000687624.1:n.316T>C
ENST00000687906.1:c.1485+52T>C	ENSP00000509536.1:n.1485+52T>C
ENST00000688597.1:c.1224+7022T>C	ENSP00000510628.1:n.1224+7022T>C
ENST00000688701.1:n.843+52T>C
ENST00000690210.1:c.1599+52T>C	ENSP00000509272.1:n.1599+52T>C
ENST00000690472.1:n.808+52T>C
ENST00000692624.1:c.*145+52T>C	ENSP00000508953.1:n.*145+52T>C
ENST00000351677.7:c.1599+52T>C MANE Select	ENSP00000340944.3:n.1599+52T>C
ENST00000351677.6:c.1599+52T>C	ENSP00000340944.2:n.1599+52T>C
ENST00000635625.1:c.1611+52T>C	ENSP00000489597.1:n.1611+52T>C
NM_002834.3:c.1599+52T>C , LRG_614t1:c.1599+52T>C	NP_002825.3:n.1599+52T>C
XM_006719526.1:c.1611+52T>C	XP_006719589.1:n.1611+52T>C
XM_006719527.1:c.1497+52T>C	XP_006719590.1:n.1497+52T>C
XM_011538613.1:c.1608+52T>C	XP_011536915.1:n.1608+52T>C
NM_001330437.1:c.1611+52T>C	NP_001317366.1:n.1611+52T>C
NM_002834.4:c.1599+52T>C	NP_002825.3:n.1599+52T>C
XM_011538613.2:c.1608+52T>C	XP_011536915.1:n.1608+52T>C
XM_017019722.1:c.1596+52T>C	XP_016875211.1:n.1596+52T>C
NM_001330437.2:c.1611+52T>C	NP_001317366.1:n.1611+52T>C
NM_001374625.1:c.1596+52T>C	NP_001361554.1:n.1596+52T>C
NM_002834.5:c.1599+52T>C MANE Select	NP_002825.3:n.1599+52T>C