Canonical Allele Identifier: CA645293811

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425814
• ClinVar RCV Id: RCV000488531 ; RCV001810974
• dbSNP Id: rs1085307251
• MyVariant Identifiers: chr2:g.203383612_203383613del (hg19) ; chr2:g.202518889_202518890del (hg38)
• PubMed: PMID:11115378 ; PMID:18356561 ; PMID:20534176 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518889_202518890del , CM000664.2:g.202518889_202518890del	GRCh38
NC_000002.11:g.203383612_203383613del , CM000664.1:g.203383612_203383613del	GRCh37
NC_000002.10:g.203091857_203091858del	NCBI36
NG_009363.1:g.147563_147564del , LRG_712:g.147563_147564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.689_690del MANE Select	ENSP00000363708.4:p.Lys230SerfsTer25
ENST00000638587.1:c.620_621del	ENSP00000491062.1:p.Lys207SerfsTer25
ENST00000374574.2:c.689_690del	ENSP00000363702.2:p.Lys230SerfsTer25
ENST00000374580.8:c.689_690del	ENSP00000363708.4:p.Lys230SerfsTer25
NM_001204.6:c.689_690del , LRG_712t1:c.689_690del	NP_001195.2:p.Lys230SerfsTer25
XM_011511687.1:c.689_690del	XP_011509989.1:p.Lys230SerfsTer25
XM_011511688.1:c.689_690del	XP_011509990.1:p.Lys230SerfsTer25
NM_001204.7:c.689_690del MANE Select	NP_001195.2:p.Lys230SerfsTer25