Canonical Allele Identifier: CA1321556443

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552742_202552745delinsCGAA , CM000664.2:g.202552742_202552745delinsCGAA	GRCh38
NC_000002.11:g.203417465_203417468delinsCGAA , CM000664.1:g.203417465_203417468delinsCGAA	GRCh37
NC_000002.10:g.203125710_203125713delinsCGAA	NCBI36
NG_009363.1:g.181416_181419delinsCGAA , LRG_712:g.181416_181419delinsCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1440_1443delinsCGAA MANE Select	ENSP00000363708.4:p.Ile480=
ENST00000638587.1:c.1371_1374delinsCGAA	ENSP00000491062.1:p.Ile457=
ENST00000374574.2:c.1440_1443delinsCGAA	ENSP00000363702.2:p.Ile480=
ENST00000374580.8:c.1440_1443delinsCGAA	ENSP00000363708.4:p.Ile480=
NM_001204.6:c.1440_1443delinsCGAA , LRG_712t1:c.1440_1443delinsCGAA	NP_001195.2:p.Ile480=
XM_011511687.1:c.1440_1443delinsCGAA	XP_011509989.1:p.Ile480=
XM_011511688.1:c.1440_1443delinsCGAA	XP_011509990.1:p.Ile480=
NM_001204.7:c.1440_1443delinsCGAA MANE Select	NP_001195.2:p.Ile480=