Canonical Allele Identifier: CA923726365

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556244_202556245del , CM000664.2:g.202556244_202556245del	GRCh38
NC_000002.11:g.203420967_203420968del , CM000664.1:g.203420967_203420968del	GRCh37
NC_000002.10:g.203129212_203129213del	NCBI36
NG_009363.1:g.184918_184919del , LRG_712:g.184918_184919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2579_2580del MANE Select	ENSP00000363708.4:p.Ile860LysfsTer5
ENST00000638587.1:c.2510_2511del	ENSP00000491062.1:n.2510_2511del
ENST00000374574.2:c.1586+3356_1586+3357del	ENSP00000363702.2:n.1586+3356_1586+3357del
ENST00000374580.8:c.2579_2580del	ENSP00000363708.4:p.Ile860LysfsTer5
NM_001204.6:c.2579_2580del , LRG_712t1:c.2579_2580del	NP_001195.2:p.Ile860LysfsTer5
XM_011511687.1:c.2579_2580del	XP_011509989.1:p.Ile860LysfsTer5
XM_011511688.1:c.1586+3356_1586+3357del	XP_011509990.1:n.1586+3356_1586+3357del
NM_001204.7:c.2579_2580del MANE Select	NP_001195.2:p.Ile860LysfsTer5