Canonical Allele Identifier: CA2586965558

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530870_202530874delinsG , CM000664.2:g.202530870_202530874delinsG	GRCh38
NC_000002.11:g.203395593_203395597delinsG , CM000664.1:g.203395593_203395597delinsG	GRCh37
NC_000002.10:g.203103838_203103842delinsG	NCBI36
NG_009363.1:g.159544_159548delinsG , LRG_712:g.159544_159548delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1044_1048delinsG MANE Select	ENSP00000363708.4:p.Ile349ValfsTer7
ENST00000638587.1:c.975_979delinsG	ENSP00000491062.1:p.Ile326ValfsTer7
ENST00000374574.2:c.1044_1048delinsG	ENSP00000363702.2:p.Ile349ValfsTer7
ENST00000374580.8:c.1044_1048delinsG	ENSP00000363708.4:p.Ile349ValfsTer7
NM_001204.6:c.1044_1048delinsG , LRG_712t1:c.1044_1048delinsG	NP_001195.2:p.Ile349ValfsTer7
XM_011511687.1:c.1044_1048delinsG	XP_011509989.1:p.Ile349ValfsTer7
XM_011511688.1:c.1044_1048delinsG	XP_011509990.1:p.Ile349ValfsTer7
NM_001204.7:c.1044_1048delinsG MANE Select	NP_001195.2:p.Ile349ValfsTer7