Canonical Allele Identifier: CA64012711

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202514667G>A , CM000664.2:g.202514667G>A	GRCh38
NC_000002.11:g.203379390G>A , CM000664.1:g.203379390G>A	GRCh37
NC_000002.10:g.203087635G>A	NCBI36
NG_009363.1:g.143341G>A , LRG_712:g.143341G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001204.7:c.530-221G>A MANE Select	NP_001195.2:n.530-221G>A
ENST00000374580.10:c.530-221G>A MANE Select	ENSP00000363708.4:n.530-221G>A
NM_001204.6:c.530-221G>A , LRG_712t1:c.530-221G>A	NP_001195.2:n.530-221G>A
ENST00000374574.2:c.530-221G>A	ENSP00000363702.2:n.530-221G>A
ENST00000374580.8:c.530-221G>A	ENSP00000363708.4:n.530-221G>A
ENST00000638587.1:c.461-221G>A	ENSP00000491062.1:n.461-221G>A
XM_011511687.1:c.530-221G>A	XP_011509989.1:n.530-221G>A
XM_011511688.1:c.530-221G>A	XP_011509990.1:n.530-221G>A