Canonical Allele Identifier: CA1321510679
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467664T= , CM000664.2:g.202467664T= GRCh38
NC_000002.11:g.203332387T= , CM000664.1:g.203332387T= GRCh37
NC_000002.10:g.203040632T= NCBI36
NG_009363.1:g.96338T= , LRG_712:g.96338T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.393T= MANE Select ENSP00000363708.4:p.Phe131=
ENST00000638587.1:c.324T= ENSP00000491062.1:p.Phe108=
ENST00000374574.2:c.393T= ENSP00000363702.2:p.Phe131=
ENST00000374580.8:c.393T= ENSP00000363708.4:p.Phe131=
ENST00000479069.1:n.300T=
NM_001204.6:c.393T= , LRG_712t1:c.393T= NP_001195.2:p.Phe131=
XM_011511687.1:c.393T= XP_011509989.1:p.Phe131=
XM_011511688.1:c.393T= XP_011509990.1:p.Phe131=
NM_001204.7:c.393T= MANE Select NP_001195.2:p.Phe131=