Canonical Allele Identifier: CA1321550381

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202541922_202541923delinsGC , CM000664.2:g.202541922_202541923delinsGC	GRCh38
NC_000002.11:g.203406645_203406646delinsGC , CM000664.1:g.203406645_203406646delinsGC	GRCh37
NC_000002.10:g.203114890_203114891delinsGC	NCBI36
NG_009363.1:g.170596_170597delinsGC , LRG_712:g.170596_170597delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1277-389_1277-388delinsGC MANE Select	ENSP00000363708.4:n.1277-389_1277-388delinsGC
ENST00000638587.1:c.1208-389_1208-388delinsGC	ENSP00000491062.1:n.1208-389_1208-388delinsGC
ENST00000374574.2:c.1277-389_1277-388delinsGC	ENSP00000363702.2:n.1277-389_1277-388delinsGC
ENST00000374580.8:c.1277-389_1277-388delinsGC	ENSP00000363708.4:n.1277-389_1277-388delinsGC
NM_001204.6:c.1277-389_1277-388delinsGC , LRG_712t1:c.1277-389_1277-388delinsGC	NP_001195.2:n.1277-389_1277-388delinsGC
XM_011511687.1:c.1277-389_1277-388delinsGC	XP_011509989.1:n.1277-389_1277-388delinsGC
XM_011511688.1:c.1277-389_1277-388delinsGC	XP_011509990.1:n.1277-389_1277-388delinsGC
NM_001204.7:c.1277-389_1277-388delinsGC MANE Select	NP_001195.2:n.1277-389_1277-388delinsGC