Canonical Allele Identifier: CA2662703899

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202377622-GAGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377623_202377628del , CM000664.2:g.202377623_202377628del	GRCh38
NC_000002.11:g.203242346_203242351del , CM000664.1:g.203242346_203242351del	GRCh37
NC_000002.10:g.202950591_202950596del	NCBI36
NG_009363.1:g.6297_6302del , LRG_712:g.6297_6302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+73_76+78del MANE Select	ENSP00000363708.4:n.76+73_76+78del
ENST00000374574.2:c.76+73_76+78del	ENSP00000363702.2:n.76+73_76+78del
ENST00000374580.8:c.76+73_76+78del	ENSP00000363708.4:n.76+73_76+78del
NM_001204.6:c.76+73_76+78del , LRG_712t1:c.76+73_76+78del	NP_001195.2:n.76+73_76+78del
XM_011511687.1:c.76+73_76+78del	XP_011509989.1:n.76+73_76+78del
XM_011511688.1:c.76+73_76+78del	XP_011509990.1:n.76+73_76+78del
NM_001204.7:c.76+73_76+78del MANE Select	NP_001195.2:n.76+73_76+78del