Canonical Allele Identifier: CA645294006
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425746
ClinVar RCV Id: RCV000488832 RCV001856888
dbSNP Id: rs1085307199
MyVariant Identifiers: chr2:g.203332254dup (hg19) chr2:g.202467531dup (hg38)
PubMed: PMID:19555857 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467531dup , CM000664.2:g.202467531dup GRCh38
NC_000002.11:g.203332254dup , CM000664.1:g.203332254dup GRCh37
NC_000002.10:g.203040499dup NCBI36
NG_009363.1:g.96205dup , LRG_712:g.96205dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.260dup MANE Select ENSP00000363708.4:p.His87GlnfsTer11
ENST00000638587.1:c.191dup ENSP00000491062.1:p.His64GlnfsTer11
ENST00000374574.2:c.260dup ENSP00000363702.2:p.His87GlnfsTer11
ENST00000374580.8:c.260dup ENSP00000363708.4:p.His87GlnfsTer11
ENST00000479069.1:n.167dup
NM_001204.6:c.260dup , LRG_712t1:c.260dup NP_001195.2:p.His87GlnfsTer11
XM_011511687.1:c.260dup XP_011509989.1:p.His87GlnfsTer11
XM_011511688.1:c.260dup XP_011509990.1:p.His87GlnfsTer11
NM_001204.7:c.260dup MANE Select NP_001195.2:p.His87GlnfsTer11
Search 100 bp 5'
Search 100 bp 3'