Canonical Allele Identifier: CA1321559454

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555966_202555973delinsAGAGCCCC , CM000664.2:g.202555966_202555973delinsAGAGCCCC	GRCh38
NC_000002.11:g.203420689_203420696delinsAGAGCCCC , CM000664.1:g.203420689_203420696delinsAGAGCCCC	GRCh37
NC_000002.10:g.203128934_203128941delinsAGAGCCCC	NCBI36
NG_009363.1:g.184640_184647delinsAGAGCCCC , LRG_712:g.184640_184647delinsAGAGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2301_2308delinsAGAGCCCC MANE Select	ENSP00000363708.4:p.Lys767=
ENST00000638587.1:c.2232_2239delinsAGAGCCCC	ENSP00000491062.1:n.2232_2239delinsAGAGCCCC
ENST00000374574.2:c.1586+3078_1586+3085delinsAGAGCCCC	ENSP00000363702.2:n.1586+3078_1586+3085delinsAGAGCCCC
ENST00000374580.8:c.2301_2308delinsAGAGCCCC	ENSP00000363708.4:p.Lys767=
NM_001204.6:c.2301_2308delinsAGAGCCCC , LRG_712t1:c.2301_2308delinsAGAGCCCC	NP_001195.2:p.Lys767=
XM_011511687.1:c.2301_2308delinsAGAGCCCC	XP_011509989.1:p.Lys767=
XM_011511688.1:c.1586+3078_1586+3085delinsAGAGCCCC	XP_011509990.1:n.1586+3078_1586+3085delinsAGAGCCCC
NM_001204.7:c.2301_2308delinsAGAGCCCC MANE Select	NP_001195.2:p.Lys767=