Canonical Allele Identifier: CA2573051840
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339359
ClinVar RCV Id: RCV001823955
dbSNP Id: rs2105711988
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555933del , CM000664.2:g.202555933del GRCh38
NC_000002.11:g.203420656del , CM000664.1:g.203420656del GRCh37
NC_000002.10:g.203128901del NCBI36
NG_009363.1:g.184607del , LRG_712:g.184607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2268del MANE Select ENSP00000363708.4:p.Ser757ValfsTer4
ENST00000638587.1:c.2199del ENSP00000491062.1:n.2199del
ENST00000374574.2:c.1586+3045del ENSP00000363702.2:n.1586+3045del
ENST00000374580.8:c.2268del ENSP00000363708.4:p.Ser757ValfsTer4
NM_001204.6:c.2268del , LRG_712t1:c.2268del NP_001195.2:p.Ser757ValfsTer4
XM_011511687.1:c.2268del XP_011509989.1:p.Ser757ValfsTer4
XM_011511688.1:c.1586+3045del XP_011509990.1:n.1586+3045del
NM_001204.7:c.2268del MANE Select NP_001195.2:p.Ser757ValfsTer4
Search 100 bp 5'
Search 100 bp 3'