Canonical Allele Identifier: CA1321474630

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377426_202377427delinsCT , CM000664.2:g.202377426_202377427delinsCT	GRCh38
NC_000002.11:g.203242149_203242150delinsCT , CM000664.1:g.203242149_203242150delinsCT	GRCh37
NC_000002.10:g.202950394_202950395delinsCT	NCBI36
NG_009363.1:g.6100_6101delinsCT , LRG_712:g.6100_6101delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.-49_-48delinsCT MANE Select	ENSP00000363708.4:n.-49_-48delinsCT
ENST00000374580.8:c.-49_-48delinsCT	ENSP00000363708.4:n.-49_-48delinsCT
NM_001204.6:c.-49_-48delinsCT , LRG_712t1:c.-49_-48delinsCT	NP_001195.2:n.-49_-48delinsCT
XM_011511687.1:c.-49_-48delinsCT	XP_011509989.1:n.-49_-48delinsCT
XM_011511688.1:c.-49_-48delinsCT	XP_011509990.1:n.-49_-48delinsCT
NM_001204.7:c.-49_-48delinsCT MANE Select	NP_001195.2:n.-49_-48delinsCT