Canonical Allele Identifier: CA645294017
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425777
ClinVar RCV Id: RCV000488701 RCV001003669
dbSNP Id: rs1085307225
MyVariant Identifiers: chr2:g.203332402_203332406del (hg19) chr2:g.202467679_202467683del (hg38)
PubMed: PMID:20534176 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467679_202467683del , CM000664.2:g.202467679_202467683del GRCh38
NC_000002.11:g.203332402_203332406del , CM000664.1:g.203332402_203332406del GRCh37
NC_000002.10:g.203040647_203040651del NCBI36
NG_009363.1:g.96353_96357del , LRG_712:g.96353_96357del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.408_412del MANE Select ENSP00000363708.4:p.Pro138GlnfsTer7
ENST00000638587.1:c.339_343del ENSP00000491062.1:p.Pro115GlnfsTer7
ENST00000374574.2:c.408_412del ENSP00000363702.2:p.Pro138GlnfsTer7
ENST00000374580.8:c.408_412del ENSP00000363708.4:p.Pro138GlnfsTer7
ENST00000479069.1:n.315_319del
NM_001204.6:c.408_412del , LRG_712t1:c.408_412del NP_001195.2:p.Pro138GlnfsTer7
XM_011511687.1:c.408_412del XP_011509989.1:p.Pro138GlnfsTer7
XM_011511688.1:c.408_412del XP_011509990.1:p.Pro138GlnfsTer7
NM_001204.7:c.408_412del MANE Select NP_001195.2:p.Pro138GlnfsTer7
Search 100 bp 5'
Search 100 bp 3'