Canonical Allele Identifier: CA2586971099

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532595dup , CM000664.2:g.202532595dup	GRCh38
NC_000002.11:g.203397318dup , CM000664.1:g.203397318dup	GRCh37
NC_000002.10:g.203105563dup	NCBI36
NG_009363.1:g.161269dup , LRG_712:g.161269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1139dup MANE Select	ENSP00000363708.4:p.Arg381GlnfsTer18
ENST00000638587.1:c.1070dup	ENSP00000491062.1:p.Arg358GlnfsTer18
ENST00000374574.2:c.1139dup	ENSP00000363702.2:p.Arg381GlnfsTer18
ENST00000374580.8:c.1139dup	ENSP00000363708.4:p.Arg381GlnfsTer18
NM_001204.6:c.1139dup , LRG_712t1:c.1139dup	NP_001195.2:p.Arg381GlnfsTer18
XM_011511687.1:c.1139dup	XP_011509989.1:p.Arg381GlnfsTer18
XM_011511688.1:c.1139dup	XP_011509990.1:p.Arg381GlnfsTer18
NM_001204.7:c.1139dup MANE Select	NP_001195.2:p.Arg381GlnfsTer18