Canonical Allele Identifier: CA645293843
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307337
MyVariant Identifiers: chr2:g.203407070_203407073del (hg19) chr2:g.202542347_202542350del (hg38)
PubMed: PMID:15591269 PMID:21801371 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542347_202542350del , CM000664.2:g.202542347_202542350del GRCh38
NC_000002.11:g.203407070_203407073del , CM000664.1:g.203407070_203407073del GRCh37
NC_000002.10:g.203115315_203115318del NCBI36
NG_009363.1:g.171021_171024del , LRG_712:g.171021_171024del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1313_1316del MANE Select ENSP00000363708.4:p.Thr438ArgfsTer?
ENST00000638587.1:c.1244_1247del ENSP00000491062.1:p.Thr415ArgfsTer?
ENST00000374574.2:c.1313_1316del ENSP00000363702.2:p.Thr438ArgfsTer?
ENST00000374580.8:c.1313_1316del ENSP00000363708.4:p.Thr438ArgfsTer?
NM_001204.6:c.1313_1316del , LRG_712t1:c.1313_1316del NP_001195.2:p.Thr438ArgfsTer?
XM_011511687.1:c.1313_1316del XP_011509989.1:p.Thr438ArgfsTer?
XM_011511688.1:c.1313_1316del XP_011509990.1:p.Thr438ArgfsTer?
NM_001204.7:c.1313_1316del MANE Select NP_001195.2:p.Thr438ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'