Canonical Allele Identifier: CA1041346358
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688003126
gnomAD v3: 2-202530579-TTTAG-T
gnomAD v4: 2-202530579-TTTAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530583_202530586del , CM000664.2:g.202530583_202530586del GRCh38
NC_000002.11:g.203395306_203395309del , CM000664.1:g.203395306_203395309del GRCh37
NC_000002.10:g.203103551_203103554del NCBI36
NG_009363.1:g.159257_159260del , LRG_712:g.159257_159260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-211_968-208del MANE Select ENSP00000363708.4:n.968-211_968-208del
ENST00000638587.1:c.899-211_899-208del ENSP00000491062.1:n.899-211_899-208del
ENST00000374574.2:c.968-211_968-208del ENSP00000363702.2:n.968-211_968-208del
ENST00000374580.8:c.968-211_968-208del ENSP00000363708.4:n.968-211_968-208del
NM_001204.6:c.968-211_968-208del , LRG_712t1:c.968-211_968-208del NP_001195.2:n.968-211_968-208del
XM_011511687.1:c.968-211_968-208del XP_011509989.1:n.968-211_968-208del
XM_011511688.1:c.968-211_968-208del XP_011509990.1:n.968-211_968-208del
NM_001204.7:c.968-211_968-208del MANE Select NP_001195.2:n.968-211_968-208del
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