Canonical Allele Identifier: CA915941646
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812816
ClinVar RCV Id: RCV001003689
dbSNP Id: rs1574488412
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518961_202518962del , CM000664.2:g.202518961_202518962del GRCh38
NC_000002.11:g.203383684_203383685del , CM000664.1:g.203383684_203383685del GRCh37
NC_000002.10:g.203091929_203091930del NCBI36
NG_009363.1:g.147635_147636del , LRG_712:g.147635_147636del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.761_762del MANE Select ENSP00000363708.4:p.His254ArgfsTer11
ENST00000638587.1:c.692_693del ENSP00000491062.1:p.His231ArgfsTer11
ENST00000374574.2:c.761_762del ENSP00000363702.2:p.His254ArgfsTer11
ENST00000374580.8:c.761_762del ENSP00000363708.4:p.His254ArgfsTer11
NM_001204.6:c.761_762del , LRG_712t1:c.761_762del NP_001195.2:p.His254ArgfsTer11
XM_011511687.1:c.761_762del XP_011509989.1:p.His254ArgfsTer11
XM_011511688.1:c.761_762del XP_011509990.1:p.His254ArgfsTer11
NM_001204.7:c.761_762del MANE Select NP_001195.2:p.His254ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'