Canonical Allele Identifier: CA350340374
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425817
ClinVar RCV Id: RCV000488589
dbSNP Id: rs1085307254
gnomAD v4: 2-202518927-G-A
MyVariant Identifiers: chr2:g.203383650G>A (hg19) chr2:g.202518927G>A (hg38)
PubMed: PMID:20002458 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518927G>A , CM000664.2:g.202518927G>A GRCh38
NC_000002.11:g.203383650G>A , CM000664.1:g.203383650G>A GRCh37
NC_000002.10:g.203091895G>A NCBI36
NG_009363.1:g.147601G>A , LRG_712:g.147601G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.727G>A MANE Select ENSP00000363708.4:p.Glu243Lys
ENST00000638587.1:c.658G>A ENSP00000491062.1:p.Glu220Lys
ENST00000374574.2:c.727G>A ENSP00000363702.2:p.Glu243Lys
ENST00000374580.8:c.727G>A ENSP00000363708.4:p.Glu243Lys
NM_001204.6:c.727G>A , LRG_712t1:c.727G>A NP_001195.2:p.Glu243Lys
XM_011511687.1:c.727G>A XP_011509989.1:p.Glu243Lys
XM_011511688.1:c.727G>A XP_011509990.1:p.Glu243Lys
NM_001204.7:c.727G>A MANE Select NP_001195.2:p.Glu243Lys
Search 100 bp 5'
Search 100 bp 3'