Canonical Allele Identifier: CA915941650

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 811205
• ClinVar RCV Id: RCV001000916
• dbSNP Id: rs1574493773

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530903_202530904del , CM000664.2:g.202530903_202530904del	GRCh38
NC_000002.11:g.203395626_203395627del , CM000664.1:g.203395626_203395627del	GRCh37
NC_000002.10:g.203103871_203103872del	NCBI36
NG_009363.1:g.159577_159578del , LRG_712:g.159577_159578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1077_1078del MANE Select	ENSP00000363708.4:p.Gly360LysfsTer2
ENST00000638587.1:c.1008_1009del	ENSP00000491062.1:p.Gly337LysfsTer2
ENST00000374574.2:c.1077_1078del	ENSP00000363702.2:p.Gly360LysfsTer2
ENST00000374580.8:c.1077_1078del	ENSP00000363708.4:p.Gly360LysfsTer2
NM_001204.6:c.1077_1078del , LRG_712t1:c.1077_1078del	NP_001195.2:p.Gly360LysfsTer2
XM_011511687.1:c.1077_1078del	XP_011509989.1:p.Gly360LysfsTer2
XM_011511688.1:c.1077_1078del	XP_011509990.1:p.Gly360LysfsTer2
NM_001204.7:c.1077_1078del MANE Select	NP_001195.2:p.Gly360LysfsTer2