Canonical Allele Identifier: CA1321559357
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555899T= , CM000664.2:g.202555899T= GRCh38
NC_000002.11:g.203420622T= , CM000664.1:g.203420622T= GRCh37
NC_000002.10:g.203128867T= NCBI36
NG_009363.1:g.184573T= , LRG_712:g.184573T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2234T= MANE Select ENSP00000363708.4:p.Leu745=
ENST00000638587.1:c.2165T= ENSP00000491062.1:n.2165T=
ENST00000374574.2:c.1586+3011T= ENSP00000363702.2:n.1586+3011T=
ENST00000374580.8:c.2234T= ENSP00000363708.4:p.Leu745=
NM_001204.6:c.2234T= , LRG_712t1:c.2234T= NP_001195.2:p.Leu745=
XM_011511687.1:c.2234T= XP_011509989.1:p.Leu745=
XM_011511688.1:c.1586+3011T= XP_011509990.1:n.1586+3011T=
NM_001204.7:c.2234T= MANE Select NP_001195.2:p.Leu745=