Canonical Allele Identifier: CA1321558924
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555553T= , CM000664.2:g.202555553T= GRCh38
NC_000002.11:g.203420276T= , CM000664.1:g.203420276T= GRCh37
NC_000002.10:g.203128521T= NCBI36
NG_009363.1:g.184227T= , LRG_712:g.184227T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1888T= MANE Select ENSP00000363708.4:p.Ser630=
ENST00000638587.1:c.1819T= ENSP00000491062.1:n.1819T=
ENST00000374574.2:c.1586+2665T= ENSP00000363702.2:n.1586+2665T=
ENST00000374580.8:c.1888T= ENSP00000363708.4:p.Ser630=
NM_001204.6:c.1888T= , LRG_712t1:c.1888T= NP_001195.2:p.Ser630=
XM_011511687.1:c.1888T= XP_011509989.1:p.Ser630=
XM_011511688.1:c.1586+2665T= XP_011509990.1:n.1586+2665T=
NM_001204.7:c.1888T= MANE Select NP_001195.2:p.Ser630=