Canonical Allele Identifier: CA1321544904
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530835_202530840delinsAGAAAT , CM000664.2:g.202530835_202530840delinsAGAAAT GRCh38
NC_000002.11:g.203395558_203395563delinsAGAAAT , CM000664.1:g.203395558_203395563delinsAGAAAT GRCh37
NC_000002.10:g.203103803_203103808delinsAGAAAT NCBI36
NG_009363.1:g.159509_159514delinsAGAAAT , LRG_712:g.159509_159514delinsAGAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1009_1014delinsAGAAAT MANE Select ENSP00000363708.4:p.Arg337=
ENST00000638587.1:c.940_945delinsAGAAAT ENSP00000491062.1:p.Arg314=
ENST00000374574.2:c.1009_1014delinsAGAAAT ENSP00000363702.2:p.Arg337=
ENST00000374580.8:c.1009_1014delinsAGAAAT ENSP00000363708.4:p.Arg337=
NM_001204.6:c.1009_1014delinsAGAAAT , LRG_712t1:c.1009_1014delinsAGAAAT NP_001195.2:p.Arg337=
XM_011511687.1:c.1009_1014delinsAGAAAT XP_011509989.1:p.Arg337=
XM_011511688.1:c.1009_1014delinsAGAAAT XP_011509990.1:p.Arg337=
NM_001204.7:c.1009_1014delinsAGAAAT MANE Select NP_001195.2:p.Arg337=