Canonical Allele Identifier: CA2540119911

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377784_202377785del , CM000664.2:g.202377784_202377785del	GRCh38
NC_000002.11:g.203242507_203242508del , CM000664.1:g.203242507_203242508del	GRCh37
NC_000002.10:g.202950752_202950753del	NCBI36
NG_009363.1:g.6458_6459del , LRG_712:g.6458_6459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+234_76+235del MANE Select	ENSP00000363708.4:n.76+234_76+235del
ENST00000374574.2:c.76+234_76+235del	ENSP00000363702.2:n.76+234_76+235del
ENST00000374580.8:c.76+234_76+235del	ENSP00000363708.4:n.76+234_76+235del
NM_001204.6:c.76+234_76+235del , LRG_712t1:c.76+234_76+235del	NP_001195.2:n.76+234_76+235del
XM_011511687.1:c.76+234_76+235del	XP_011509989.1:n.76+234_76+235del
XM_011511688.1:c.76+234_76+235del	XP_011509990.1:n.76+234_76+235del
NM_001204.7:c.76+234_76+235del MANE Select	NP_001195.2:n.76+234_76+235del