Canonical Allele Identifier: CA915942368

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 813012
• ClinVar RCV Id: RCV001004024
• dbSNP Id: rs1574415799

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377500_202377515del , CM000664.2:g.202377500_202377515del	GRCh38
NC_000002.11:g.203242223_203242238del , CM000664.1:g.203242223_203242238del	GRCh37
NC_000002.10:g.202950468_202950483del	NCBI36
NG_009363.1:g.6174_6189del , LRG_712:g.6174_6189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.26_41del MANE Select	ENSP00000363708.4:p.Trp9TyrfsTer?
ENST00000374574.2:c.26_41del	ENSP00000363702.2:p.Trp9TyrfsTer?
ENST00000374580.8:c.26_41del	ENSP00000363708.4:p.Trp9TyrfsTer?
NM_001204.6:c.26_41del , LRG_712t1:c.26_41del	NP_001195.2:p.Trp9TyrfsTer?
XM_011511687.1:c.26_41del	XP_011509989.1:p.Trp9TyrfsTer?
XM_011511688.1:c.26_41del	XP_011509990.1:p.Trp9TyrfsTer?
NM_001204.7:c.26_41del MANE Select	NP_001195.2:p.Trp9TyrfsTer?