Canonical Allele Identifier: CA220158
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 13326
ClinVar RCV Id: RCV000014254 RCV000033516 RCV000077863 RCV000156977 RCV000515324 RCV000576594 RCV000621227 RCV000622835 RCV000850589 RCV000999988
dbSNP Id: rs28933386
ExAC: 12:112915523 A / G
gnomAD v2: 12-112915523-A-G
gnomAD v3: 12-112477719-A-G
gnomAD v4: 12-112477719-A-G
COSMIC: COSM24612
MyVariant Identifiers: chr12:g.112915523A>G (hg19) chr12:g.112477719A>G (hg38)
ERepo: CA220158/MONDO:0018997/004
PubMed: PMID:1258892 PMID:1543375 PMID:4025385 PMID:4386970 PMID:8530013 PMID:9222968 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:12960218 PMID:14974085 PMID:15001945 PMID:15240615 PMID:15248152 PMID:15539800 PMID:15723289 PMID:15834506 PMID:15929108 PMID:15956085 PMID:15987685 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:16523510 PMID:17020470 PMID:17056636 PMID:17143285 PMID:17222357 PMID:17339163 PMID:17515436 PMID:17546245 PMID:17661820 PMID:18253957 PMID:18331608 PMID:19077116 PMID:19133693 PMID:19206169 PMID:19352411 PMID:19467855 PMID:19509418 PMID:20301303 PMID:20308328 PMID:20979190 PMID:21340158 PMID:21396583 PMID:21407260 PMID:21500339 PMID:21533187 PMID:21567923 PMID:21590266 PMID:22190897 PMID:22465605 PMID:23726368 PMID:23891399 PMID:24628801 PMID:25326637 PMID:25912702 PMID:26249544 PMID:26297936 PMID:26785492 PMID:26817465 PMID:27479907 PMID:27521173 PMID:27619028 PMID:28135719 PMID:28483241
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112477719A>G , CM000674.2:g.112477719A>G GRCh38
NC_000012.11:g.112915523A>G , CM000674.1:g.112915523A>G GRCh37
NC_000012.10:g.111399906A>G NCBI36
NG_007459.1:g.63988A>G , LRG_614:g.63988A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000639857.2:c.922A>G ENSP00000491593.2:p.Asn308Asp
ENST00000685487.1:c.922A>G ENSP00000508503.1:p.Asn308Asp
ENST00000687906.1:c.808A>G ENSP00000509536.1:p.Asn270Asp
ENST00000688597.1:c.922A>G ENSP00000510628.1:p.Asn308Asp
ENST00000690210.1:c.922A>G ENSP00000509272.1:p.Asn308Asp
ENST00000692624.1:c.922A>G ENSP00000508953.1:p.Asn308Asp
ENST00000351677.7:c.922A>G MANE Select ENSP00000340944.3:p.Asn308Asp
ENST00000351677.6:c.922A>G ENSP00000340944.2:p.Asn308Asp
ENST00000392597.5:c.922A>G ENSP00000376376.1:p.Asn308Asp
ENST00000635625.1:c.922A>G ENSP00000489597.1:p.Asn308Asp
NM_002834.3:c.922A>G , LRG_614t1:c.922A>G NP_002825.3:p.Asn308Asp
NM_080601.1:c.922A>G NP_542168.1:p.Asn308Asp
XM_006719526.1:c.922A>G XP_006719589.1:p.Asn308Asp
XM_006719527.1:c.808A>G XP_006719590.1:p.Asn270Asp
XM_011538613.1:c.919A>G XP_011536915.1:p.Asn307Asp
NM_001330437.1:c.922A>G NP_001317366.1:p.Asn308Asp
NM_002834.4:c.922A>G NP_002825.3:p.Asn308Asp
NM_080601.2:c.922A>G NP_542168.1:p.Asn308Asp
XM_011538613.2:c.919A>G XP_011536915.1:p.Asn307Asp
XM_017019722.1:c.919A>G XP_016875211.1:p.Asn307Asp
NM_001330437.2:c.922A>G NP_001317366.1:p.Asn308Asp
NM_001374625.1:c.919A>G NP_001361554.1:p.Asn307Asp
NM_002834.5:c.922A>G MANE Select NP_002825.3:p.Asn308Asp
NM_080601.3:c.922A>G NP_542168.1:p.Asn308Asp
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