Canonical Allele Identifier: CA1321539678

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518886_202518888delinsTAA , CM000664.2:g.202518886_202518888delinsTAA	GRCh38
NC_000002.11:g.203383609_203383611delinsTAA , CM000664.1:g.203383609_203383611delinsTAA	GRCh37
NC_000002.10:g.203091854_203091856delinsTAA	NCBI36
NG_009363.1:g.147560_147562delinsTAA , LRG_712:g.147560_147562delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.686_688delinsTAA MANE Select	ENSP00000363708.4:p.Val229=
ENST00000638587.1:c.617_619delinsTAA	ENSP00000491062.1:p.Val206=
ENST00000374574.2:c.686_688delinsTAA	ENSP00000363702.2:p.Val229=
ENST00000374580.8:c.686_688delinsTAA	ENSP00000363708.4:p.Val229=
NM_001204.6:c.686_688delinsTAA , LRG_712t1:c.686_688delinsTAA	NP_001195.2:p.Val229=
XM_011511687.1:c.686_688delinsTAA	XP_011509989.1:p.Val229=
XM_011511688.1:c.686_688delinsTAA	XP_011509990.1:p.Val229=
NM_001204.7:c.686_688delinsTAA MANE Select	NP_001195.2:p.Val229=