Canonical Allele Identifier: CA1321559659

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556104_202556106delinsCCA , CM000664.2:g.202556104_202556106delinsCCA	GRCh38
NC_000002.11:g.203420827_203420829delinsCCA , CM000664.1:g.203420827_203420829delinsCCA	GRCh37
NC_000002.10:g.203129072_203129074delinsCCA	NCBI36
NG_009363.1:g.184778_184780delinsCCA , LRG_712:g.184778_184780delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2439_2441delinsCCA MANE Select	ENSP00000363708.4:p.Asn813=
ENST00000638587.1:c.2370_2372delinsCCA	ENSP00000491062.1:n.2370_2372delinsCCA
ENST00000374574.2:c.1586+3216_1586+3218delinsCCA	ENSP00000363702.2:n.1586+3216_1586+3218delinsCCA
ENST00000374580.8:c.2439_2441delinsCCA	ENSP00000363708.4:p.Asn813=
NM_001204.6:c.2439_2441delinsCCA , LRG_712t1:c.2439_2441delinsCCA	NP_001195.2:p.Asn813=
XM_011511687.1:c.2439_2441delinsCCA	XP_011509989.1:p.Asn813=
XM_011511688.1:c.1586+3216_1586+3218delinsCCA	XP_011509990.1:n.1586+3216_1586+3218delinsCCA
NM_001204.7:c.2439_2441delinsCCA MANE Select	NP_001195.2:p.Asn813=