Canonical Allele Identifier: CA2586971107

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542404_202542407del , CM000664.2:g.202542404_202542407del	GRCh38
NC_000002.11:g.203407127_203407130del , CM000664.1:g.203407127_203407130del	GRCh37
NC_000002.10:g.203115372_203115375del	NCBI36
NG_009363.1:g.171078_171081del , LRG_712:g.171078_171081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1370_1373del MANE Select	ENSP00000363708.4:p.Lys457ArgfsTer16
ENST00000638587.1:c.1301_1304del	ENSP00000491062.1:p.Lys434ArgfsTer16
ENST00000374574.2:c.1370_1373del	ENSP00000363702.2:p.Lys457ArgfsTer16
ENST00000374580.8:c.1370_1373del	ENSP00000363708.4:p.Lys457ArgfsTer16
NM_001204.6:c.1370_1373del , LRG_712t1:c.1370_1373del	NP_001195.2:p.Lys457ArgfsTer16
XM_011511687.1:c.1370_1373del	XP_011509989.1:p.Lys457ArgfsTer16
XM_011511688.1:c.1370_1373del	XP_011509990.1:p.Lys457ArgfsTer16
NM_001204.7:c.1370_1373del MANE Select	NP_001195.2:p.Lys457ArgfsTer16