Canonical Allele Identifier: CA1321539681

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518890_202518891delinsAG , CM000664.2:g.202518890_202518891delinsAG	GRCh38
NC_000002.11:g.203383613_203383614delinsAG , CM000664.1:g.203383613_203383614delinsAG	GRCh37
NC_000002.10:g.203091858_203091859delinsAG	NCBI36
NG_009363.1:g.147564_147565delinsAG , LRG_712:g.147564_147565delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.690_691delinsAG MANE Select	ENSP00000363708.4:p.Lys230=
ENST00000638587.1:c.621_622delinsAG	ENSP00000491062.1:p.Lys207=
ENST00000374574.2:c.690_691delinsAG	ENSP00000363702.2:p.Lys230=
ENST00000374580.8:c.690_691delinsAG	ENSP00000363708.4:p.Lys230=
NM_001204.6:c.690_691delinsAG , LRG_712t1:c.690_691delinsAG	NP_001195.2:p.Lys230=
XM_011511687.1:c.690_691delinsAG	XP_011509989.1:p.Lys230=
XM_011511688.1:c.690_691delinsAG	XP_011509990.1:p.Lys230=
NM_001204.7:c.690_691delinsAG MANE Select	NP_001195.2:p.Lys230=