Canonical Allele Identifier: CA1321559312

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555879_202555880delinsGC , CM000664.2:g.202555879_202555880delinsGC	GRCh38
NC_000002.11:g.203420602_203420603delinsGC , CM000664.1:g.203420602_203420603delinsGC	GRCh37
NC_000002.10:g.203128847_203128848delinsGC	NCBI36
NG_009363.1:g.184553_184554delinsGC , LRG_712:g.184553_184554delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2214_2215delinsGC MANE Select	ENSP00000363708.4:p.Leu738=
ENST00000638587.1:c.2145_2146delinsGC	ENSP00000491062.1:n.2145_2146delinsGC
ENST00000374574.2:c.1586+2991_1586+2992delinsGC	ENSP00000363702.2:n.1586+2991_1586+2992delinsGC
ENST00000374580.8:c.2214_2215delinsGC	ENSP00000363708.4:p.Leu738=
NM_001204.6:c.2214_2215delinsGC , LRG_712t1:c.2214_2215delinsGC	NP_001195.2:p.Leu738=
XM_011511687.1:c.2214_2215delinsGC	XP_011509989.1:p.Leu738=
XM_011511688.1:c.1586+2991_1586+2992delinsGC	XP_011509990.1:n.1586+2991_1586+2992delinsGC
NM_001204.7:c.2214_2215delinsGC MANE Select	NP_001195.2:p.Leu738=