Canonical Allele Identifier: CA1321556718

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552850_202552852delinsAAC , CM000664.2:g.202552850_202552852delinsAAC	GRCh38
NC_000002.11:g.203417573_203417575delinsAAC , CM000664.1:g.203417573_203417575delinsAAC	GRCh37
NC_000002.10:g.203125818_203125820delinsAAC	NCBI36
NG_009363.1:g.181524_181526delinsAAC , LRG_712:g.181524_181526delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1548_1550delinsAAC MANE Select	ENSP00000363708.4:p.Pro516=
ENST00000638587.1:c.1479_1481delinsAAC	ENSP00000491062.1:p.Pro493=
ENST00000374574.2:c.1548_1550delinsAAC	ENSP00000363702.2:p.Pro516=
ENST00000374580.8:c.1548_1550delinsAAC	ENSP00000363708.4:p.Pro516=
NM_001204.6:c.1548_1550delinsAAC , LRG_712t1:c.1548_1550delinsAAC	NP_001195.2:p.Pro516=
XM_011511687.1:c.1548_1550delinsAAC	XP_011509989.1:p.Pro516=
XM_011511688.1:c.1548_1550delinsAAC	XP_011509990.1:p.Pro516=
NM_001204.7:c.1548_1550delinsAAC MANE Select	NP_001195.2:p.Pro516=