Canonical Allele Identifier: CA1321545691
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532702A= , CM000664.2:g.202532702A= GRCh38
NC_000002.11:g.203397425A= , CM000664.1:g.203397425A= GRCh37
NC_000002.10:g.203105670A= NCBI36
NG_009363.1:g.161376A= , LRG_712:g.161376A=

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1246A= MANE Select ENSP00000363708.4:p.Ile416=
ENST00000638587.1:c.1177A= ENSP00000491062.1:p.Ile393=
ENST00000374574.2:c.1246A= ENSP00000363702.2:p.Ile416=
ENST00000374580.8:c.1246A= ENSP00000363708.4:p.Ile416=
NM_001204.6:c.1246A= , LRG_712t1:c.1246A= NP_001195.2:p.Ile416=
XM_011511687.1:c.1246A= XP_011509989.1:p.Ile416=
XM_011511688.1:c.1246A= XP_011509990.1:p.Ile416=
NM_001204.7:c.1246A= MANE Select NP_001195.2:p.Ile416=