Canonical Allele Identifier: CA1321545744

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532794_202532795delinsAC , CM000664.2:g.202532794_202532795delinsAC	GRCh38
NC_000002.11:g.203397517_203397518delinsAC , CM000664.1:g.203397517_203397518delinsAC	GRCh37
NC_000002.10:g.203105762_203105763delinsAC	NCBI36
NG_009363.1:g.161468_161469delinsAC , LRG_712:g.161468_161469delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+62_1276+63delinsAC MANE Select	ENSP00000363708.4:n.1276+62_1276+63delinsAC
ENST00000638587.1:c.1207+62_1207+63delinsAC	ENSP00000491062.1:n.1207+62_1207+63delinsAC
ENST00000374574.2:c.1276+62_1276+63delinsAC	ENSP00000363702.2:n.1276+62_1276+63delinsAC
ENST00000374580.8:c.1276+62_1276+63delinsAC	ENSP00000363708.4:n.1276+62_1276+63delinsAC
NM_001204.6:c.1276+62_1276+63delinsAC , LRG_712t1:c.1276+62_1276+63delinsAC	NP_001195.2:n.1276+62_1276+63delinsAC
XM_011511687.1:c.1276+62_1276+63delinsAC	XP_011509989.1:n.1276+62_1276+63delinsAC
XM_011511688.1:c.1276+62_1276+63delinsAC	XP_011509990.1:n.1276+62_1276+63delinsAC
NM_001204.7:c.1276+62_1276+63delinsAC MANE Select	NP_001195.2:n.1276+62_1276+63delinsAC