Canonical Allele Identifier: CA350340506
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518985T>A , CM000664.2:g.202518985T>A GRCh38
NC_000002.11:g.203383708T>A , CM000664.1:g.203383708T>A GRCh37
NC_000002.10:g.203091953T>A NCBI36
NG_009363.1:g.147659T>A , LRG_712:g.147659T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.785T>A MANE Select ENSP00000363708.4:p.Val262Asp
ENST00000638587.1:c.716T>A ENSP00000491062.1:p.Val239Asp
ENST00000374574.2:c.785T>A ENSP00000363702.2:p.Val262Asp
ENST00000374580.8:c.785T>A ENSP00000363708.4:p.Val262Asp
NM_001204.6:c.785T>A , LRG_712t1:c.785T>A NP_001195.2:p.Val262Asp
XM_011511687.1:c.785T>A XP_011509989.1:p.Val262Asp
XM_011511688.1:c.785T>A XP_011509990.1:p.Val262Asp
NM_001204.7:c.785T>A MANE Select NP_001195.2:p.Val262Asp