Canonical Allele Identifier: CA645293957

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425991
• ClinVar RCV Id: RCV000488569
• dbSNP Id: rs1085307390
• MyVariant Identifiers: chr2:g.203420892del (hg19) ; chr2:g.202556169del (hg38)
• PubMed: PMID:16728714 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556169del , CM000664.2:g.202556169del	GRCh38
NC_000002.11:g.203420892del , CM000664.1:g.203420892del	GRCh37
NC_000002.10:g.203129137del	NCBI36
NG_009363.1:g.184843del , LRG_712:g.184843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2504del MANE Select	ENSP00000363708.4:p.Thr835LysfsTer4
ENST00000638587.1:c.2435del	ENSP00000491062.1:n.2435del
ENST00000374574.2:c.1586+3281del	ENSP00000363702.2:n.1586+3281del
ENST00000374580.8:c.2504del	ENSP00000363708.4:p.Thr835LysfsTer4
NM_001204.6:c.2504del , LRG_712t1:c.2504del	NP_001195.2:p.Thr835LysfsTer4
XM_011511687.1:c.2504del	XP_011509989.1:p.Thr835LysfsTer4
XM_011511688.1:c.1586+3281del	XP_011509990.1:n.1586+3281del
NM_001204.7:c.2504del MANE Select	NP_001195.2:p.Thr835LysfsTer4