Canonical Allele Identifier: CA645293989
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425703
ClinVar RCV Id: RCV000488842
dbSNP Id: rs1085307164

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464835del , CM000664.2:g.202464835del GRCh38
NC_000002.11:g.203329558del , CM000664.1:g.203329558del GRCh37
NC_000002.10:g.203037803del NCBI36
NG_009363.1:g.93509del , LRG_712:g.93509del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.103del MANE Select ENSP00000363708.4:p.Ala35ArgfsTer12
ENST00000638587.1:c.28del ENSP00000491062.1:p.Ala10ArgfsTer12
ENST00000374574.2:c.103del ENSP00000363702.2:p.Ala35ArgfsTer12
ENST00000374580.8:c.103del ENSP00000363708.4:p.Ala35ArgfsTer12
ENST00000479069.1:n.10del
NM_001204.6:c.103del , LRG_712t1:c.103del NP_001195.2:p.Ala35ArgfsTer12
XM_011511687.1:c.103del XP_011509989.1:p.Ala35ArgfsTer12
XM_011511688.1:c.103del XP_011509990.1:p.Ala35ArgfsTer12
NM_001204.7:c.103del MANE Select NP_001195.2:p.Ala35ArgfsTer12