Canonical Allele Identifier: CA1321560259

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556549_202556550delinsAT , CM000664.2:g.202556549_202556550delinsAT	GRCh38
NC_000002.11:g.203421272_203421273delinsAT , CM000664.1:g.203421272_203421273delinsAT	GRCh37
NC_000002.10:g.203129517_203129518delinsAT	NCBI36
NG_009363.1:g.185223_185224delinsAT , LRG_712:g.185223_185224delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2866+18_2866+19delinsAT MANE Select	ENSP00000363708.4:n.2866+18_2866+19delinsAT
ENST00000638587.1:c.2797+18_2797+19delinsAT	ENSP00000491062.1:n.2797+18_2797+19delinsAT
ENST00000374574.2:c.1587-3147_1587-3146delinsAT	ENSP00000363702.2:n.1587-3147_1587-3146delinsAT
ENST00000374580.8:c.2866+18_2866+19delinsAT	ENSP00000363708.4:n.2866+18_2866+19delinsAT
NM_001204.6:c.2866+18_2866+19delinsAT , LRG_712t1:c.2866+18_2866+19delinsAT	NP_001195.2:n.2866+18_2866+19delinsAT
XM_011511687.1:c.2866+18_2866+19delinsAT	XP_011509989.1:n.2866+18_2866+19delinsAT
XM_011511688.1:c.1587-3147_1587-3146delinsAT	XP_011509990.1:n.1587-3147_1587-3146delinsAT
NM_001204.7:c.2866+18_2866+19delinsAT MANE Select	NP_001195.2:n.2866+18_2866+19delinsAT