Canonical Allele Identifier: CA1321474780

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377666_202377667delinsGC , CM000664.2:g.202377666_202377667delinsGC	GRCh38
NC_000002.11:g.203242389_203242390delinsGC , CM000664.1:g.203242389_203242390delinsGC	GRCh37
NC_000002.10:g.202950634_202950635delinsGC	NCBI36
NG_009363.1:g.6340_6341delinsGC , LRG_712:g.6340_6341delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+116_76+117delinsGC MANE Select	ENSP00000363708.4:n.76+116_76+117delinsGC
ENST00000374574.2:c.76+116_76+117delinsGC	ENSP00000363702.2:n.76+116_76+117delinsGC
ENST00000374580.8:c.76+116_76+117delinsGC	ENSP00000363708.4:n.76+116_76+117delinsGC
NM_001204.6:c.76+116_76+117delinsGC , LRG_712t1:c.76+116_76+117delinsGC	NP_001195.2:n.76+116_76+117delinsGC
XM_011511687.1:c.76+116_76+117delinsGC	XP_011509989.1:n.76+116_76+117delinsGC
XM_011511688.1:c.76+116_76+117delinsGC	XP_011509990.1:n.76+116_76+117delinsGC
NM_001204.7:c.76+116_76+117delinsGC MANE Select	NP_001195.2:n.76+116_76+117delinsGC