Canonical Allele Identifier: CA2740359266

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552863_202552864insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC , CM000664.2:g.202552863_202552864insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	GRCh38
NC_000002.11:g.203417586_203417587insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC , CM000664.1:g.203417586_203417587insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	GRCh37
NC_000002.10:g.203125831_203125832insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	NCBI36
NG_009363.1:g.181537_181538insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC , LRG_712:g.181537_181538insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC MANE Select	ENSP00000363708.4:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePh...
ENST00000638587.1:c.1492_1493insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	ENSP00000491062.1:p.Met498delinsSerLeuLeuAspSerSerLeuThrPhePh...
ENST00000374574.2:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	ENSP00000363702.2:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePh...
ENST00000374580.8:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	ENSP00000363708.4:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePh...
NM_001204.6:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC , LRG_712t1:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	NP_001195.2:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePheProPh...
XM_011511687.1:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	XP_011509989.1:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePhePr...
XM_011511688.1:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC	XP_011509990.1:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePhePr...
NM_001204.7:c.1561_1562insGCCTTCTTGACAGCTCCCTGACCTTCTTCCCTTTCAGCCTGGAGCAGCTGTGTTCTC MANE Select	NP_001195.2:p.Met521delinsSerLeuLeuAspSerSerLeuThrPhePheProPh...