Canonical Allele Identifier: CA2586971008

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518848del , CM000664.2:g.202518848del	GRCh38
NC_000002.11:g.203383571del , CM000664.1:g.203383571del	GRCh37
NC_000002.10:g.203091816del	NCBI36
NG_009363.1:g.147522del , LRG_712:g.147522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.648del MANE Select	ENSP00000363708.4:p.Val217TyrfsTer13
ENST00000638587.1:c.579del	ENSP00000491062.1:p.Val194TyrfsTer13
ENST00000374574.2:c.648del	ENSP00000363702.2:p.Val217TyrfsTer13
ENST00000374580.8:c.648del	ENSP00000363708.4:p.Val217TyrfsTer13
NM_001204.6:c.648del , LRG_712t1:c.648del	NP_001195.2:p.Val217TyrfsTer13
XM_011511687.1:c.648del	XP_011509989.1:p.Val217TyrfsTer13
XM_011511688.1:c.648del	XP_011509990.1:p.Val217TyrfsTer13
NM_001204.7:c.648del MANE Select	NP_001195.2:p.Val217TyrfsTer13