Canonical Allele Identifier: CA1321545713
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532741_202532743delinsTAC , CM000664.2:g.202532741_202532743delinsTAC GRCh38
NC_000002.11:g.203397464_203397466delinsTAC , CM000664.1:g.203397464_203397466delinsTAC GRCh37
NC_000002.10:g.203105709_203105711delinsTAC NCBI36
NG_009363.1:g.161415_161417delinsTAC , LRG_712:g.161415_161417delinsTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1276+9_1276+11delinsTAC MANE Select ENSP00000363708.4:n.1276+9_1276+11delinsTAC
ENST00000638587.1:c.1207+9_1207+11delinsTAC ENSP00000491062.1:n.1207+9_1207+11delinsTAC
ENST00000374574.2:c.1276+9_1276+11delinsTAC ENSP00000363702.2:n.1276+9_1276+11delinsTAC
ENST00000374580.8:c.1276+9_1276+11delinsTAC ENSP00000363708.4:n.1276+9_1276+11delinsTAC
NM_001204.6:c.1276+9_1276+11delinsTAC , LRG_712t1:c.1276+9_1276+11delinsTAC NP_001195.2:n.1276+9_1276+11delinsTAC
XM_011511687.1:c.1276+9_1276+11delinsTAC XP_011509989.1:n.1276+9_1276+11delinsTAC
XM_011511688.1:c.1276+9_1276+11delinsTAC XP_011509990.1:n.1276+9_1276+11delinsTAC
NM_001204.7:c.1276+9_1276+11delinsTAC MANE Select NP_001195.2:n.1276+9_1276+11delinsTAC