Canonical Allele Identifier: CA1321545575

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532405_202532410delinsGTTTAC , CM000664.2:g.202532405_202532410delinsGTTTAC	GRCh38
NC_000002.11:g.203397128_203397133delinsGTTTAC , CM000664.1:g.203397128_203397133delinsGTTTAC	GRCh37
NC_000002.10:g.203105373_203105378delinsGTTTAC	NCBI36
NG_009363.1:g.161079_161084delinsGTTTAC , LRG_712:g.161079_161084delinsGTTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1129-180_1129-175delinsGTTTAC MANE Select	ENSP00000363708.4:n.1129-180_1129-175delinsGTTTAC
ENST00000638587.1:c.1060-180_1060-175delinsGTTTAC	ENSP00000491062.1:n.1060-180_1060-175delinsGTTTAC
ENST00000374574.2:c.1129-180_1129-175delinsGTTTAC	ENSP00000363702.2:n.1129-180_1129-175delinsGTTTAC
ENST00000374580.8:c.1129-180_1129-175delinsGTTTAC	ENSP00000363708.4:n.1129-180_1129-175delinsGTTTAC
NM_001204.6:c.1129-180_1129-175delinsGTTTAC , LRG_712t1:c.1129-180_1129-175delinsGTTTAC	NP_001195.2:n.1129-180_1129-175delinsGTTTAC
XM_011511687.1:c.1129-180_1129-175delinsGTTTAC	XP_011509989.1:n.1129-180_1129-175delinsGTTTAC
XM_011511688.1:c.1129-180_1129-175delinsGTTTAC	XP_011509990.1:n.1129-180_1129-175delinsGTTTAC
NM_001204.7:c.1129-180_1129-175delinsGTTTAC MANE Select	NP_001195.2:n.1129-180_1129-175delinsGTTTAC