Canonical Allele Identifier: CA2662706768

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202555416-GAAATTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555418_202555424del , CM000664.2:g.202555418_202555424del	GRCh38
NC_000002.11:g.203420141_203420147del , CM000664.1:g.203420141_203420147del	GRCh37
NC_000002.10:g.203128386_203128392del	NCBI36
NG_009363.1:g.184092_184098del , LRG_712:g.184092_184098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1753_1759del MANE Select	ENSP00000363708.4:p.Asn585LeufsTer?
ENST00000638587.1:c.1684_1690del	ENSP00000491062.1:n.1684_1690del
ENST00000374574.2:c.1586+2530_1586+2536del	ENSP00000363702.2:n.1586+2530_1586+2536del
ENST00000374580.8:c.1753_1759del	ENSP00000363708.4:p.Asn585LeufsTer?
NM_001204.6:c.1753_1759del , LRG_712t1:c.1753_1759del	NP_001195.2:p.Asn585LeufsTer?
XM_011511687.1:c.1753_1759del	XP_011509989.1:p.Asn585LeufsTer?
XM_011511688.1:c.1586+2530_1586+2536del	XP_011509990.1:n.1586+2530_1586+2536del
NM_001204.7:c.1753_1759del MANE Select	NP_001195.2:p.Asn585LeufsTer?