Canonical Allele Identifier: CA645293974
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425869
ClinVar RCV Id: RCV000488536
dbSNP Id: rs1085307294
MyVariant Identifiers: chr2:g.203395625del (hg19) chr2:g.202530902del (hg38)
PubMed: PMID:11115378 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530902del , CM000664.2:g.202530902del GRCh38
NC_000002.11:g.203395625del , CM000664.1:g.203395625del GRCh37
NC_000002.10:g.203103870del NCBI36
NG_009363.1:g.159576del , LRG_712:g.159576del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1076del MANE Select ENSP00000363708.4:p.Thr359MetfsTer16
ENST00000638587.1:c.1007del ENSP00000491062.1:p.Thr336MetfsTer16
ENST00000374574.2:c.1076del ENSP00000363702.2:p.Thr359MetfsTer16
ENST00000374580.8:c.1076del ENSP00000363708.4:p.Thr359MetfsTer16
NM_001204.6:c.1076del , LRG_712t1:c.1076del NP_001195.2:p.Thr359MetfsTer16
XM_011511687.1:c.1076del XP_011509989.1:p.Thr359MetfsTer16
XM_011511688.1:c.1076del XP_011509990.1:p.Thr359MetfsTer16
NM_001204.7:c.1076del MANE Select NP_001195.2:p.Thr359MetfsTer16
Search 100 bp 5'
Search 100 bp 3'