Canonical Allele Identifier: CA1321550597
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1027322
ClinVar RCV Id: RCV001327901
dbSNP Id: rs1688292101
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542320_202542343del , CM000664.2:g.202542320_202542343del GRCh38
NC_000002.11:g.203407043_203407066del , CM000664.1:g.203407043_203407066del GRCh37
NC_000002.10:g.203115288_203115311del NCBI36
NG_009363.1:g.170994_171017del , LRG_712:g.170994_171017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1286_1309del MANE Select ENSP00000363708.4:p.Val429_Gln437delinsGlu
ENST00000638587.1:c.1217_1240del ENSP00000491062.1:p.Val406_Gln414delinsGlu
ENST00000374574.2:c.1286_1309del ENSP00000363702.2:p.Val429_Gln437delinsGlu
ENST00000374580.8:c.1286_1309del ENSP00000363708.4:p.Val429_Gln437delinsGlu
NM_001204.6:c.1286_1309del , LRG_712t1:c.1286_1309del NP_001195.2:p.Val429_Gln437delinsGlu
XM_011511687.1:c.1286_1309del XP_011509989.1:p.Val429_Gln437delinsGlu
XM_011511688.1:c.1286_1309del XP_011509990.1:p.Val429_Gln437delinsGlu
NM_001204.7:c.1286_1309del MANE Select NP_001195.2:p.Val429_Gln437delinsGlu
Search 100 bp 5'
Search 100 bp 3'