Canonical Allele Identifier: CA1321559787

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556167_202556184delinsAACAACCAACATAGTGAC , CM000664.2:g.202556167_202556184delinsAACAACCAACATAGTGAC	GRCh38
NC_000002.11:g.203420890_203420907delinsAACAACCAACATAGTGAC , CM000664.1:g.203420890_203420907delinsAACAACCAACATAGTGAC	GRCh37
NC_000002.10:g.203129135_203129152delinsAACAACCAACATAGTGAC	NCBI36
NG_009363.1:g.184841_184858delinsAACAACCAACATAGTGAC , LRG_712:g.184841_184858delinsAACAACCAACATAGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2502_2519delinsAACAACCAACATAGTGAC MANE Select	ENSP00000363708.4:p.Gln834=
ENST00000638587.1:c.2433_2450delinsAACAACCAACATAGTGAC	ENSP00000491062.1:n.2433_2450delinsAACAACCAACATAGTGAC
ENST00000374574.2:c.1586+3279_1586+3296delinsAACAACCAACATAGTGAC	ENSP00000363702.2:n.1586+3279_1586+3296delinsAACAACCAACATAGTG...
ENST00000374580.8:c.2502_2519delinsAACAACCAACATAGTGAC	ENSP00000363708.4:p.Gln834=
NM_001204.6:c.2502_2519delinsAACAACCAACATAGTGAC , LRG_712t1:c.2502_2519delinsAACAACCAACATAGTGAC	NP_001195.2:p.Gln834=
XM_011511687.1:c.2502_2519delinsAACAACCAACATAGTGAC	XP_011509989.1:p.Gln834=
XM_011511688.1:c.1586+3279_1586+3296delinsAACAACCAACATAGTGAC	XP_011509990.1:n.1586+3279_1586+3296delinsAACAACCAACATAGTGAC
NM_001204.7:c.2502_2519delinsAACAACCAACATAGTGAC MANE Select	NP_001195.2:p.Gln834=