Canonical Allele Identifier: CA2573134351

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464878del , CM000664.2:g.202464878del	GRCh38
NC_000002.11:g.203329601del , CM000664.1:g.203329601del	GRCh37
NC_000002.10:g.203037846del	NCBI36
NG_009363.1:g.93552del , LRG_712:g.93552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.146del MANE Select	ENSP00000363708.4:p.Ser49IlefsTer29
ENST00000638587.1:c.71del	ENSP00000491062.1:p.Ser24IlefsTer29
ENST00000374574.2:c.146del	ENSP00000363702.2:p.Ser49IlefsTer29
ENST00000374580.8:c.146del	ENSP00000363708.4:p.Ser49IlefsTer29
ENST00000479069.1:n.53del
NM_001204.6:c.146del , LRG_712t1:c.146del	NP_001195.2:p.Ser49IlefsTer29
XM_011511687.1:c.146del	XP_011509989.1:p.Ser49IlefsTer29
XM_011511688.1:c.146del	XP_011509990.1:p.Ser49IlefsTer29
NM_001204.7:c.146del MANE Select	NP_001195.2:p.Ser49IlefsTer29