Canonical Allele Identifier: CA2061276
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686508
ClinVar RCV Id: RCV002247021
dbSNP Id: rs767882551

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530847G>A , CM000664.2:g.202530847G>A GRCh38
NC_000002.11:g.203395570G>A , CM000664.1:g.203395570G>A GRCh37
NC_000002.10:g.203103815G>A NCBI36
NG_009363.1:g.159521G>A , LRG_712:g.159521G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1021G>A MANE Select ENSP00000363708.4:p.Val341Met
ENST00000638587.1:c.952G>A ENSP00000491062.1:p.Val318Met
ENST00000374574.2:c.1021G>A ENSP00000363702.2:p.Val341Met
ENST00000374580.8:c.1021G>A ENSP00000363708.4:p.Val341Met
NM_001204.6:c.1021G>A , LRG_712t1:c.1021G>A NP_001195.2:p.Val341Met
XM_011511687.1:c.1021G>A XP_011509989.1:p.Val341Met
XM_011511688.1:c.1021G>A XP_011509990.1:p.Val341Met
NM_001204.7:c.1021G>A MANE Select NP_001195.2:p.Val341Met