Canonical Allele Identifier: CA1321550607

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542342_202542346delinsTCAGA , CM000664.2:g.202542342_202542346delinsTCAGA	GRCh38
NC_000002.11:g.203407065_203407069delinsTCAGA , CM000664.1:g.203407065_203407069delinsTCAGA	GRCh37
NC_000002.10:g.203115310_203115314delinsTCAGA	NCBI36
NG_009363.1:g.171016_171020delinsTCAGA , LRG_712:g.171016_171020delinsTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1308_1312delinsTCAGA MANE Select	ENSP00000363708.4:p.Phe436=
ENST00000638587.1:c.1239_1243delinsTCAGA	ENSP00000491062.1:p.Phe413=
ENST00000374574.2:c.1308_1312delinsTCAGA	ENSP00000363702.2:p.Phe436=
ENST00000374580.8:c.1308_1312delinsTCAGA	ENSP00000363708.4:p.Phe436=
NM_001204.6:c.1308_1312delinsTCAGA , LRG_712t1:c.1308_1312delinsTCAGA	NP_001195.2:p.Phe436=
XM_011511687.1:c.1308_1312delinsTCAGA	XP_011509989.1:p.Phe436=
XM_011511688.1:c.1308_1312delinsTCAGA	XP_011509990.1:p.Phe436=
NM_001204.7:c.1308_1312delinsTCAGA MANE Select	NP_001195.2:p.Phe436=