Canonical Allele Identifier: CA2662706290

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202532521-CTAATGTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532523_202532532del , CM000664.2:g.202532523_202532532del	GRCh38
NC_000002.11:g.203397246_203397255del , CM000664.1:g.203397246_203397255del	GRCh37
NC_000002.10:g.203105491_203105500del	NCBI36
NG_009363.1:g.161197_161206del , LRG_712:g.161197_161206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1129-62_1129-53del MANE Select	ENSP00000363708.4:n.1129-62_1129-53del
ENST00000638587.1:c.1060-62_1060-53del	ENSP00000491062.1:n.1060-62_1060-53del
ENST00000374574.2:c.1129-62_1129-53del	ENSP00000363702.2:n.1129-62_1129-53del
ENST00000374580.8:c.1129-62_1129-53del	ENSP00000363708.4:n.1129-62_1129-53del
NM_001204.6:c.1129-62_1129-53del , LRG_712t1:c.1129-62_1129-53del	NP_001195.2:n.1129-62_1129-53del
XM_011511687.1:c.1129-62_1129-53del	XP_011509989.1:n.1129-62_1129-53del
XM_011511688.1:c.1129-62_1129-53del	XP_011509990.1:n.1129-62_1129-53del
NM_001204.7:c.1129-62_1129-53del MANE Select	NP_001195.2:n.1129-62_1129-53del