Canonical Allele Identifier: CA2832528660
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518863del , CM000664.2:g.202518863del GRCh38
NC_000002.11:g.203383586del , CM000664.1:g.203383586del GRCh37
NC_000002.10:g.203091831del NCBI36
NG_009363.1:g.147537del , LRG_712:g.147537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.663del MANE Select ENSP00000363708.4:p.Leu222TrpfsTer8
ENST00000638587.1:c.594del ENSP00000491062.1:p.Leu199TrpfsTer8
ENST00000374574.2:c.663del ENSP00000363702.2:p.Leu222TrpfsTer8
ENST00000374580.8:c.663del ENSP00000363708.4:p.Leu222TrpfsTer8
NM_001204.6:c.663del , LRG_712t1:c.663del NP_001195.2:p.Leu222TrpfsTer8
XM_011511687.1:c.663del XP_011509989.1:p.Leu222TrpfsTer8
XM_011511688.1:c.663del XP_011509990.1:p.Leu222TrpfsTer8
NM_001204.7:c.663del MANE Select NP_001195.2:p.Leu222TrpfsTer8
Search 100 bp 5'
Search 100 bp 3'