Canonical Allele Identifier: CA2573051837
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339414
ClinVar RCV Id: RCV001824010
dbSNP Id: rs2105711575
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555623del , CM000664.2:g.202555623del GRCh38
NC_000002.11:g.203420346del , CM000664.1:g.203420346del GRCh37
NC_000002.10:g.203128591del NCBI36
NG_009363.1:g.184297del , LRG_712:g.184297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1958del MANE Select ENSP00000363708.4:p.Pro653LeufsTer6
ENST00000638587.1:c.1889del ENSP00000491062.1:n.1889del
ENST00000374574.2:c.1586+2735del ENSP00000363702.2:n.1586+2735del
ENST00000374580.8:c.1958del ENSP00000363708.4:p.Pro653LeufsTer6
NM_001204.6:c.1958del , LRG_712t1:c.1958del NP_001195.2:p.Pro653LeufsTer6
XM_011511687.1:c.1958del XP_011509989.1:p.Pro653LeufsTer6
XM_011511688.1:c.1586+2735del XP_011509990.1:n.1586+2735del
NM_001204.7:c.1958del MANE Select NP_001195.2:p.Pro653LeufsTer6
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