Canonical Allele Identifier: CA2061309

Gene: BMPR2

Linked Data

• dbSNP Id: rs757439319
• ExAC: 2:203397277 CT / C
• gnomAD v2: 2-203397277-CT-C
• gnomAD v4: 2-202532554-CT-C
• MyVariant Identifiers: chr2:g.203397278del (hg19) ; chr2:g.202532555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532555del , CM000664.2:g.202532555del	GRCh38
NC_000002.11:g.203397278del , CM000664.1:g.203397278del	GRCh37
NC_000002.10:g.203105523del	NCBI36
NG_009363.1:g.161229del , LRG_712:g.161229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1129-30del MANE Select	ENSP00000363708.4:n.1129-30del
ENST00000638587.1:c.1060-30del	ENSP00000491062.1:n.1060-30del
ENST00000374574.2:c.1129-30del	ENSP00000363702.2:n.1129-30del
ENST00000374580.8:c.1129-30del	ENSP00000363708.4:n.1129-30del
NM_001204.6:c.1129-30del , LRG_712t1:c.1129-30del	NP_001195.2:n.1129-30del
XM_011511687.1:c.1129-30del	XP_011509989.1:n.1129-30del
XM_011511688.1:c.1129-30del	XP_011509990.1:n.1129-30del
NM_001204.7:c.1129-30del MANE Select	NP_001195.2:n.1129-30del