Canonical Allele Identifier: CA1321545027
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202531084C= , CM000664.2:g.202531084C= GRCh38
NC_000002.11:g.203395807C= , CM000664.1:g.203395807C= GRCh37
NC_000002.10:g.203104052C= NCBI36
NG_009363.1:g.159758C= , LRG_712:g.159758C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1128+130C= MANE Select ENSP00000363708.4:n.1128+130C=
ENST00000638587.1:c.1059+130C= ENSP00000491062.1:n.1059+130C=
ENST00000374574.2:c.1128+130C= ENSP00000363702.2:n.1128+130C=
ENST00000374580.8:c.1128+130C= ENSP00000363708.4:n.1128+130C=
NM_001204.6:c.1128+130C= , LRG_712t1:c.1128+130C= NP_001195.2:n.1128+130C=
XM_011511687.1:c.1128+130C= XP_011509989.1:n.1128+130C=
XM_011511688.1:c.1128+130C= XP_011509990.1:n.1128+130C=
NM_001204.7:c.1128+130C= MANE Select NP_001195.2:n.1128+130C=