Canonical Allele Identifier: CA1321550633

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542406_202542408delinsCAG , CM000664.2:g.202542406_202542408delinsCAG	GRCh38
NC_000002.11:g.203407129_203407131delinsCAG , CM000664.1:g.203407129_203407131delinsCAG	GRCh37
NC_000002.10:g.203115374_203115376delinsCAG	NCBI36
NG_009363.1:g.171080_171082delinsCAG , LRG_712:g.171080_171082delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1372_1374delinsCAG MANE Select	ENSP00000363708.4:p.Gln458=
ENST00000638587.1:c.1303_1305delinsCAG	ENSP00000491062.1:p.Gln435=
ENST00000374574.2:c.1372_1374delinsCAG	ENSP00000363702.2:p.Gln458=
ENST00000374580.8:c.1372_1374delinsCAG	ENSP00000363708.4:p.Gln458=
NM_001204.6:c.1372_1374delinsCAG , LRG_712t1:c.1372_1374delinsCAG	NP_001195.2:p.Gln458=
XM_011511687.1:c.1372_1374delinsCAG	XP_011509989.1:p.Gln458=
XM_011511688.1:c.1372_1374delinsCAG	XP_011509990.1:p.Gln458=
NM_001204.7:c.1372_1374delinsCAG MANE Select	NP_001195.2:p.Gln458=