Canonical Allele Identifier: CA1321540291
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520267_202520269delinsTTA , CM000664.2:g.202520267_202520269delinsTTA GRCh38
NC_000002.11:g.203384990_203384992delinsTTA , CM000664.1:g.203384990_203384992delinsTTA GRCh37
NC_000002.10:g.203093235_203093237delinsTTA NCBI36
NG_009363.1:g.148941_148943delinsTTA , LRG_712:g.148941_148943delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.967+66_967+68delinsTTA MANE Select ENSP00000363708.4:n.967+66_967+68delinsTTA
ENST00000638587.1:c.898+66_898+68delinsTTA ENSP00000491062.1:n.898+66_898+68delinsTTA
ENST00000374574.2:c.967+66_967+68delinsTTA ENSP00000363702.2:n.967+66_967+68delinsTTA
ENST00000374580.8:c.967+66_967+68delinsTTA ENSP00000363708.4:n.967+66_967+68delinsTTA
NM_001204.6:c.967+66_967+68delinsTTA , LRG_712t1:c.967+66_967+68delinsTTA NP_001195.2:n.967+66_967+68delinsTTA
XM_011511687.1:c.967+66_967+68delinsTTA XP_011509989.1:n.967+66_967+68delinsTTA
XM_011511688.1:c.967+66_967+68delinsTTA XP_011509990.1:n.967+66_967+68delinsTTA
NM_001204.7:c.967+66_967+68delinsTTA MANE Select NP_001195.2:n.967+66_967+68delinsTTA