Canonical Allele Identifier: CA2662706034
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202530704-AAAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530709_202530711del , CM000664.2:g.202530709_202530711del GRCh38
NC_000002.11:g.203395432_203395434del , CM000664.1:g.203395432_203395434del GRCh37
NC_000002.10:g.203103677_203103679del NCBI36
NG_009363.1:g.159383_159385del , LRG_712:g.159383_159385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-85_968-83del MANE Select ENSP00000363708.4:n.968-85_968-83del
ENST00000638587.1:c.899-85_899-83del ENSP00000491062.1:n.899-85_899-83del
ENST00000374574.2:c.968-85_968-83del ENSP00000363702.2:n.968-85_968-83del
ENST00000374580.8:c.968-85_968-83del ENSP00000363708.4:n.968-85_968-83del
NM_001204.6:c.968-85_968-83del , LRG_712t1:c.968-85_968-83del NP_001195.2:n.968-85_968-83del
XM_011511687.1:c.968-85_968-83del XP_011509989.1:n.968-85_968-83del
XM_011511688.1:c.968-85_968-83del XP_011509990.1:n.968-85_968-83del
NM_001204.7:c.968-85_968-83del MANE Select NP_001195.2:n.968-85_968-83del
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