Canonical Allele Identifier: CA2573051839
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1328389
ClinVar RCV Id: RCV001795821
dbSNP Id: rs2105711729
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555759del , CM000664.2:g.202555759del GRCh38
NC_000002.11:g.203420482del , CM000664.1:g.203420482del GRCh37
NC_000002.10:g.203128727del NCBI36
NG_009363.1:g.184433del , LRG_712:g.184433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2094del MANE Select ENSP00000363708.4:p.Leu699Ter
ENST00000638587.1:c.2025del ENSP00000491062.1:n.2025del
ENST00000374574.2:c.1586+2871del ENSP00000363702.2:n.1586+2871del
ENST00000374580.8:c.2094del ENSP00000363708.4:p.Leu699Ter
NM_001204.6:c.2094del , LRG_712t1:c.2094del NP_001195.2:p.Leu699Ter
XM_011511687.1:c.2094del XP_011509989.1:p.Leu699Ter
XM_011511688.1:c.1586+2871del XP_011509990.1:n.1586+2871del
NM_001204.7:c.2094del MANE Select NP_001195.2:p.Leu699Ter
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