Canonical Allele Identifier: CA915941497
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467541dup , CM000664.2:g.202467541dup GRCh38
NC_000002.11:g.203332264dup , CM000664.1:g.203332264dup GRCh37
NC_000002.10:g.203040509dup NCBI36
NG_009363.1:g.96215dup , LRG_712:g.96215dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.270dup MANE Select ENSP00000363708.4:p.Pro91SerfsTer7
ENST00000638587.1:c.201dup ENSP00000491062.1:p.Pro68SerfsTer7
ENST00000374574.2:c.270dup ENSP00000363702.2:p.Pro91SerfsTer7
ENST00000374580.8:c.270dup ENSP00000363708.4:p.Pro91SerfsTer7
ENST00000479069.1:n.177dup
NM_001204.6:c.270dup , LRG_712t1:c.270dup NP_001195.2:p.Pro91SerfsTer7
XM_011511687.1:c.270dup XP_011509989.1:p.Pro91SerfsTer7
XM_011511688.1:c.270dup XP_011509990.1:p.Pro91SerfsTer7
NM_001204.7:c.270dup MANE Select NP_001195.2:p.Pro91SerfsTer7