Canonical Allele Identifier: CA2580612181

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555634del , CM000664.2:g.202555634del	GRCh38
NC_000002.11:g.203420357del , CM000664.1:g.203420357del	GRCh37
NC_000002.10:g.203128602del	NCBI36
NG_009363.1:g.184308del , LRG_712:g.184308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1969del MANE Select	ENSP00000363708.4:p.Gln657SerfsTer2
ENST00000638587.1:c.1900del	ENSP00000491062.1:n.1900del
ENST00000374574.2:c.1586+2746del	ENSP00000363702.2:n.1586+2746del
ENST00000374580.8:c.1969del	ENSP00000363708.4:p.Gln657SerfsTer2
NM_001204.6:c.1969del , LRG_712t1:c.1969del	NP_001195.2:p.Gln657SerfsTer2
XM_011511687.1:c.1969del	XP_011509989.1:p.Gln657SerfsTer2
XM_011511688.1:c.1586+2746del	XP_011509990.1:n.1586+2746del
NM_001204.7:c.1969del MANE Select	NP_001195.2:p.Gln657SerfsTer2