Canonical Allele Identifier: CA1321539708
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518960C= , CM000664.2:g.202518960C= GRCh38
NC_000002.11:g.203383683C= , CM000664.1:g.203383683C= GRCh37
NC_000002.10:g.203091928C= NCBI36
NG_009363.1:g.147634C= , LRG_712:g.147634C=

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.760C= MANE Select ENSP00000363708.4:p.His254=
ENST00000638587.1:c.691C= ENSP00000491062.1:p.His231=
ENST00000374574.2:c.760C= ENSP00000363702.2:p.His254=
ENST00000374580.8:c.760C= ENSP00000363708.4:p.His254=
NM_001204.6:c.760C= , LRG_712t1:c.760C= NP_001195.2:p.His254=
XM_011511687.1:c.760C= XP_011509989.1:p.His254=
XM_011511688.1:c.760C= XP_011509990.1:p.His254=
NM_001204.7:c.760C= MANE Select NP_001195.2:p.His254=