Canonical Allele Identifier: CA1321559588
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556055C= , CM000664.2:g.202556055C= GRCh38
NC_000002.11:g.203420778C= , CM000664.1:g.203420778C= GRCh37
NC_000002.10:g.203129023C= NCBI36
NG_009363.1:g.184729C= , LRG_712:g.184729C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2390C= MANE Select ENSP00000363708.4:p.Ala797=
ENST00000638587.1:c.2321C= ENSP00000491062.1:n.2321C=
ENST00000374574.2:c.1586+3167C= ENSP00000363702.2:n.1586+3167C=
ENST00000374580.8:c.2390C= ENSP00000363708.4:p.Ala797=
NM_001204.6:c.2390C= , LRG_712t1:c.2390C= NP_001195.2:p.Ala797=
XM_011511687.1:c.2390C= XP_011509989.1:p.Ala797=
XM_011511688.1:c.1586+3167C= XP_011509990.1:n.1586+3167C=
NM_001204.7:c.2390C= MANE Select NP_001195.2:p.Ala797=