Canonical Allele Identifier: CA1321544918
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530865T= , CM000664.2:g.202530865T= GRCh38
NC_000002.11:g.203395588T= , CM000664.1:g.203395588T= GRCh37
NC_000002.10:g.203103833T= NCBI36
NG_009363.1:g.159539T= , LRG_712:g.159539T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1039T= MANE Select ENSP00000363708.4:p.Cys347=
ENST00000638587.1:c.970T= ENSP00000491062.1:p.Cys324=
ENST00000374574.2:c.1039T= ENSP00000363702.2:p.Cys347=
ENST00000374580.8:c.1039T= ENSP00000363708.4:p.Cys347=
NM_001204.6:c.1039T= , LRG_712t1:c.1039T= NP_001195.2:p.Cys347=
XM_011511687.1:c.1039T= XP_011509989.1:p.Cys347=
XM_011511688.1:c.1039T= XP_011509990.1:p.Cys347=
NM_001204.7:c.1039T= MANE Select NP_001195.2:p.Cys347=