Canonical Allele Identifier: CA2701464029

Gene: BMPR2

Linked Data

• dbSNP Id: rs2106007008

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518950_202518951insCTCTGTTGCTTACAGTTTATTCCA , CM000664.2:g.202518950_202518951insCTCTGTTGCTTACAGTTTATTCCA	GRCh38
NC_000002.11:g.203383673_203383674insCTCTGTTGCTTACAGTTTATTCCA , CM000664.1:g.203383673_203383674insCTCTGTTGCTTACAGTTTATTCCA	GRCh37
NC_000002.10:g.203091918_203091919insCTCTGTTGCTTACAGTTTATTCCA	NCBI36
NG_009363.1:g.147624_147625insCTCTGTTGCTTACAGTTTATTCCA , LRG_712:g.147624_147625insCTCTGTTGCTTACAGTTTATTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.750_751insCTCTGTTGCTTACAGTTTATTCCA MANE Select	ENSP00000363708.4:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro
ENST00000638587.1:c.681_682insCTCTGTTGCTTACAGTTTATTCCA	ENSP00000491062.1:p.Pro227_Leu228insLeuCysCysLeuGlnPheIlePro
ENST00000374574.2:c.750_751insCTCTGTTGCTTACAGTTTATTCCA	ENSP00000363702.2:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro
ENST00000374580.8:c.750_751insCTCTGTTGCTTACAGTTTATTCCA	ENSP00000363708.4:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro
NM_001204.6:c.750_751insCTCTGTTGCTTACAGTTTATTCCA , LRG_712t1:c.750_751insCTCTGTTGCTTACAGTTTATTCCA	NP_001195.2:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro
XM_011511687.1:c.750_751insCTCTGTTGCTTACAGTTTATTCCA	XP_011509989.1:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro
XM_011511688.1:c.750_751insCTCTGTTGCTTACAGTTTATTCCA	XP_011509990.1:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro
NM_001204.7:c.750_751insCTCTGTTGCTTACAGTTTATTCCA MANE Select	NP_001195.2:p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro