Canonical Allele Identifier: CA1139657643

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 941179
• ClinVar RCV Id: RCV001210912
• dbSNP Id: rs1688293940

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542406_202542407del , CM000664.2:g.202542406_202542407del	GRCh38
NC_000002.11:g.203407129_203407130del , CM000664.1:g.203407129_203407130del	GRCh37
NC_000002.10:g.203115374_203115375del	NCBI36
NG_009363.1:g.171080_171081del , LRG_712:g.171080_171081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1372_1373del MANE Select	ENSP00000363708.4:p.Gln458GlufsTer12
ENST00000638587.1:c.1303_1304del	ENSP00000491062.1:p.Gln435GlufsTer12
ENST00000374574.2:c.1372_1373del	ENSP00000363702.2:p.Gln458GlufsTer12
ENST00000374580.8:c.1372_1373del	ENSP00000363708.4:p.Gln458GlufsTer12
NM_001204.6:c.1372_1373del , LRG_712t1:c.1372_1373del	NP_001195.2:p.Gln458GlufsTer12
XM_011511687.1:c.1372_1373del	XP_011509989.1:p.Gln458GlufsTer12
XM_011511688.1:c.1372_1373del	XP_011509990.1:p.Gln458GlufsTer12
NM_001204.7:c.1372_1373del MANE Select	NP_001195.2:p.Gln458GlufsTer12