Canonical Allele Identifier: CA2845157272

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555876_202555879del , CM000664.2:g.202555876_202555879del	GRCh38
NC_000002.11:g.203420599_203420602del , CM000664.1:g.203420599_203420602del	GRCh37
NC_000002.10:g.203128844_203128847del	NCBI36
NG_009363.1:g.184550_184553del , LRG_712:g.184550_184553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2211_2214del MANE Select	ENSP00000363708.4:p.Pro739LeufsTer21
ENST00000638587.1:c.2142_2145del	ENSP00000491062.1:n.2142_2145del
ENST00000374574.2:c.1586+2988_1586+2991del	ENSP00000363702.2:n.1586+2988_1586+2991del
ENST00000374580.8:c.2211_2214del	ENSP00000363708.4:p.Pro739LeufsTer21
NM_001204.6:c.2211_2214del , LRG_712t1:c.2211_2214del	NP_001195.2:p.Pro739LeufsTer21
XM_011511687.1:c.2211_2214del	XP_011509989.1:p.Pro739LeufsTer21
XM_011511688.1:c.1586+2988_1586+2991del	XP_011509990.1:n.1586+2988_1586+2991del
NM_001204.7:c.2211_2214del MANE Select	NP_001195.2:p.Pro739LeufsTer21