Canonical Allele Identifier: CA1321540434

Gene: BMPR2 RPL13AP12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520706_202520707delinsCT , CM000664.2:g.202520706_202520707delinsCT	GRCh38
NC_000002.11:g.203385429_203385430delinsCT , CM000664.1:g.203385429_203385430delinsCT	GRCh37
NC_000002.10:g.203093674_203093675delinsCT	NCBI36
NG_009363.1:g.149380_149381delinsCT , LRG_712:g.149380_149381delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.967+505_967+506delinsCT (BMPR2) MANE Select	ENSP00000363708.4:n.967+505_967+506delinsCT
ENST00000638587.1:c.898+505_898+506delinsCT (BMPR2)	ENSP00000491062.1:n.898+505_898+506delinsCT
ENST00000374574.2:c.967+505_967+506delinsCT (BMPR2)	ENSP00000363702.2:n.967+505_967+506delinsCT
ENST00000374580.8:c.967+505_967+506delinsCT (BMPR2)	ENSP00000363708.4:n.967+505_967+506delinsCT
ENST00000435125.1:n.306_307delinsCT (RPL13AP12)
NM_001204.6:c.967+505_967+506delinsCT , LRG_712t1:c.967+505_967+506delinsCT (BMPR2)	NP_001195.2:n.967+505_967+506delinsCT
XM_011511687.1:c.967+505_967+506delinsCT (BMPR2)	XP_011509989.1:n.967+505_967+506delinsCT
XM_011511688.1:c.967+505_967+506delinsCT (BMPR2)	XP_011509990.1:n.967+505_967+506delinsCT
NM_001204.7:c.967+505_967+506delinsCT (BMPR2) MANE Select	NP_001195.2:n.967+505_967+506delinsCT