Canonical Allele Identifier: CA350341955
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532706T>A , CM000664.2:g.202532706T>A GRCh38
NC_000002.11:g.203397429T>A , CM000664.1:g.203397429T>A GRCh37
NC_000002.10:g.203105674T>A NCBI36
NG_009363.1:g.161380T>A , LRG_712:g.161380T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1250T>A MANE Select ENSP00000363708.4:p.Phe417Tyr
ENST00000638587.1:c.1181T>A ENSP00000491062.1:p.Phe394Tyr
ENST00000374574.2:c.1250T>A ENSP00000363702.2:p.Phe417Tyr
ENST00000374580.8:c.1250T>A ENSP00000363708.4:p.Phe417Tyr
NM_001204.6:c.1250T>A , LRG_712t1:c.1250T>A NP_001195.2:p.Phe417Tyr
XM_011511687.1:c.1250T>A XP_011509989.1:p.Phe417Tyr
XM_011511688.1:c.1250T>A XP_011509990.1:p.Phe417Tyr
NM_001204.7:c.1250T>A MANE Select NP_001195.2:p.Phe417Tyr