Canonical Allele Identifier: CA1321544821
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688004597
gnomAD v4: 2-202530646-AGT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530650_202530651del , CM000664.2:g.202530650_202530651del GRCh38
NC_000002.11:g.203395373_203395374del , CM000664.1:g.203395373_203395374del GRCh37
NC_000002.10:g.203103618_203103619del NCBI36
NG_009363.1:g.159324_159325del , LRG_712:g.159324_159325del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-144_968-143del MANE Select ENSP00000363708.4:n.968-144_968-143del
ENST00000638587.1:c.899-144_899-143del ENSP00000491062.1:n.899-144_899-143del
ENST00000374574.2:c.968-144_968-143del ENSP00000363702.2:n.968-144_968-143del
ENST00000374580.8:c.968-144_968-143del ENSP00000363708.4:n.968-144_968-143del
NM_001204.6:c.968-144_968-143del , LRG_712t1:c.968-144_968-143del NP_001195.2:n.968-144_968-143del
XM_011511687.1:c.968-144_968-143del XP_011509989.1:n.968-144_968-143del
XM_011511688.1:c.968-144_968-143del XP_011509990.1:n.968-144_968-143del
NM_001204.7:c.968-144_968-143del MANE Select NP_001195.2:n.968-144_968-143del
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