Canonical Allele Identifier: CA2567777972
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542492_202542493insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG , CM000664.2:g.202542492_202542493insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG GRCh38
NC_000002.11:g.203407215_203407216insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG , CM000664.1:g.203407215_203407216insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG GRCh37
NC_000002.10:g.203115460_203115461insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG NCBI36
NG_009363.1:g.171166_171167insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG , LRG_712:g.171166_171167insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG MANE Select ENSP00000363708.4:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGA...
ENST00000638587.1:c.1344+45_1344+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG ENSP00000491062.1:n.1344+45_1344+46insAAATTTCTAACTATCATAAATGA...
ENST00000374574.2:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG ENSP00000363702.2:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGA...
ENST00000374580.8:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG ENSP00000363708.4:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGA...
NM_001204.6:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG , LRG_712t1:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG NP_001195.2:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAAT...
XM_011511687.1:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG XP_011509989.1:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAG...
XM_011511688.1:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG XP_011509990.1:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAG...
NM_001204.7:c.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAATAACAGGGG MANE Select NP_001195.2:n.1413+45_1413+46insAAATTTCTAACTATCATAAATGATAGAAT...
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