Canonical Allele Identifier: CA2739292324
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530811del , CM000664.2:g.202530811del GRCh38
NC_000002.11:g.203395534del , CM000664.1:g.203395534del GRCh37
NC_000002.10:g.203103779del NCBI36
NG_009363.1:g.159485del , LRG_712:g.159485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.985del MANE Select ENSP00000363708.4:p.Ile329PhefsTer6
ENST00000638587.1:c.916del ENSP00000491062.1:p.Ile306PhefsTer6
ENST00000374574.2:c.985del ENSP00000363702.2:p.Ile329PhefsTer6
ENST00000374580.8:c.985del ENSP00000363708.4:p.Ile329PhefsTer6
NM_001204.6:c.985del , LRG_712t1:c.985del NP_001195.2:p.Ile329PhefsTer6
XM_011511687.1:c.985del XP_011509989.1:p.Ile329PhefsTer6
XM_011511688.1:c.985del XP_011509990.1:p.Ile329PhefsTer6
NM_001204.7:c.985del MANE Select NP_001195.2:p.Ile329PhefsTer6