Canonical Allele Identifier: CA2586970998

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513752_202513753del , CM000664.2:g.202513752_202513753del	GRCh38
NC_000002.11:g.203378475_203378476del , CM000664.1:g.203378475_203378476del	GRCh37
NC_000002.10:g.203086720_203086721del	NCBI36
NG_009363.1:g.142426_142427del , LRG_712:g.142426_142427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.452_453del MANE Select	ENSP00000363708.4:p.Ile151AsnfsTer29
ENST00000638587.1:c.383_384del	ENSP00000491062.1:p.Ile128AsnfsTer29
ENST00000374574.2:c.452_453del	ENSP00000363702.2:p.Ile151AsnfsTer29
ENST00000374580.8:c.452_453del	ENSP00000363708.4:p.Ile151AsnfsTer29
NM_001204.6:c.452_453del , LRG_712t1:c.452_453del	NP_001195.2:p.Ile151AsnfsTer29
XM_011511687.1:c.452_453del	XP_011509989.1:p.Ile151AsnfsTer29
XM_011511688.1:c.452_453del	XP_011509990.1:p.Ile151AsnfsTer29
NM_001204.7:c.452_453del MANE Select	NP_001195.2:p.Ile151AsnfsTer29