Canonical Allele Identifier: CA350341378
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425863
ClinVar RCV Id: RCV000488651
dbSNP Id: rs1085307288

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530842T>A , CM000664.2:g.202530842T>A GRCh38
NC_000002.11:g.203395565T>A , CM000664.1:g.203395565T>A GRCh37
NC_000002.10:g.203103810T>A NCBI36
NG_009363.1:g.159516T>A , LRG_712:g.159516T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1016T>A MANE Select ENSP00000363708.4:p.Val339Asp
ENST00000638587.1:c.947T>A ENSP00000491062.1:p.Val316Asp
ENST00000374574.2:c.1016T>A ENSP00000363702.2:p.Val339Asp
ENST00000374580.8:c.1016T>A ENSP00000363708.4:p.Val339Asp
NM_001204.6:c.1016T>A , LRG_712t1:c.1016T>A NP_001195.2:p.Val339Asp
XM_011511687.1:c.1016T>A XP_011509989.1:p.Val339Asp
XM_011511688.1:c.1016T>A XP_011509990.1:p.Val339Asp
NM_001204.7:c.1016T>A MANE Select NP_001195.2:p.Val339Asp