Canonical Allele Identifier: CA1321539707
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518953G= , CM000664.2:g.202518953G= GRCh38
NC_000002.11:g.203383676G= , CM000664.1:g.203383676G= GRCh37
NC_000002.10:g.203091921G= NCBI36
NG_009363.1:g.147627G= , LRG_712:g.147627G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.753G= MANE Select ENSP00000363708.4:p.Leu251=
ENST00000638587.1:c.684G= ENSP00000491062.1:p.Leu228=
ENST00000374574.2:c.753G= ENSP00000363702.2:p.Leu251=
ENST00000374580.8:c.753G= ENSP00000363708.4:p.Leu251=
NM_001204.6:c.753G= , LRG_712t1:c.753G= NP_001195.2:p.Leu251=
XM_011511687.1:c.753G= XP_011509989.1:p.Leu251=
XM_011511688.1:c.753G= XP_011509990.1:p.Leu251=
NM_001204.7:c.753G= MANE Select NP_001195.2:p.Leu251=