Canonical Allele Identifier: CA350349794
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556459C>A , CM000664.2:g.202556459C>A GRCh38
NC_000002.11:g.203421182C>A , CM000664.1:g.203421182C>A GRCh37
NC_000002.10:g.203129427C>A NCBI36
NG_009363.1:g.185133C>A , LRG_712:g.185133C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2794C>A MANE Select ENSP00000363708.4:p.Pro932Thr
ENST00000638587.1:c.2725C>A ENSP00000491062.1:n.2725C>A
ENST00000374574.2:c.1587-3237C>A ENSP00000363702.2:n.1587-3237C>A
ENST00000374580.8:c.2794C>A ENSP00000363708.4:p.Pro932Thr
NM_001204.6:c.2794C>A , LRG_712t1:c.2794C>A NP_001195.2:p.Pro932Thr
XM_011511687.1:c.2794C>A XP_011509989.1:p.Pro932Thr
XM_011511688.1:c.1587-3237C>A XP_011509990.1:n.1587-3237C>A
NM_001204.7:c.2794C>A MANE Select NP_001195.2:p.Pro932Thr