Canonical Allele Identifier: CA2753906659

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202553003_202553004insCCCCACACCAAACACACCCAACAC , CM000664.2:g.202553003_202553004insCCCCACACCAAACACACCCAACAC	GRCh38
NC_000002.11:g.203417726_203417727insCCCCACACCAAACACACCCAACAC , CM000664.1:g.203417726_203417727insCCCCACACCAAACACACCCAACAC	GRCh37
NC_000002.10:g.203125971_203125972insCCCCACACCAAACACACCCAACAC	NCBI36
NG_009363.1:g.181677_181678insCCCCACACCAAACACACCCAACAC , LRG_712:g.181677_181678insCCCCACACCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC MANE Select	ENSP00000363708.4:n.1586+115_1586+116insCCCCACACCAAACACACCCAA...
ENST00000638587.1:c.1517+115_1517+116insCCCCACACCAAACACACCCAACAC	ENSP00000491062.1:n.1517+115_1517+116insCCCCACACCAAACACACCCAA...
ENST00000374574.2:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC	ENSP00000363702.2:n.1586+115_1586+116insCCCCACACCAAACACACCCAA...
ENST00000374580.8:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC	ENSP00000363708.4:n.1586+115_1586+116insCCCCACACCAAACACACCCAA...
NM_001204.6:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC , LRG_712t1:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC	NP_001195.2:n.1586+115_1586+116insCCCCACACCAAACACACCCAACAC
XM_011511687.1:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC	XP_011509989.1:n.1586+115_1586+116insCCCCACACCAAACACACCCAACAC...
XM_011511688.1:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC	XP_011509990.1:n.1586+115_1586+116insCCCCACACCAAACACACCCAACAC...
NM_001204.7:c.1586+115_1586+116insCCCCACACCAAACACACCCAACAC MANE Select	NP_001195.2:n.1586+115_1586+116insCCCCACACCAAACACACCCAACAC