Canonical Allele Identifier: CA2662703809
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202464904-ATAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464908_202464910del , CM000664.2:g.202464908_202464910del GRCh38
NC_000002.11:g.203329631_203329633del , CM000664.1:g.203329631_203329633del GRCh37
NC_000002.10:g.203037876_203037878del NCBI36
NG_009363.1:g.93582_93584del , LRG_712:g.93582_93584del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.176_178del MANE Select ENSP00000363708.4:p.Leu59del
ENST00000638587.1:c.101_103del ENSP00000491062.1:p.Leu34del
ENST00000374574.2:c.176_178del ENSP00000363702.2:p.Leu59del
ENST00000374580.8:c.176_178del ENSP00000363708.4:p.Leu59del
ENST00000479069.1:n.83_85del
NM_001204.6:c.176_178del , LRG_712t1:c.176_178del NP_001195.2:p.Leu59del
XM_011511687.1:c.176_178del XP_011509989.1:p.Leu59del
XM_011511688.1:c.176_178del XP_011509990.1:p.Leu59del
NM_001204.7:c.176_178del MANE Select NP_001195.2:p.Leu59del
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