Canonical Allele Identifier: CA1321559446
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555961_202555962delinsAC , CM000664.2:g.202555961_202555962delinsAC GRCh38
NC_000002.11:g.203420684_203420685delinsAC , CM000664.1:g.203420684_203420685delinsAC GRCh37
NC_000002.10:g.203128929_203128930delinsAC NCBI36
NG_009363.1:g.184635_184636delinsAC , LRG_712:g.184635_184636delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2296_2297delinsAC MANE Select ENSP00000363708.4:p.Thr766=
ENST00000638587.1:c.2227_2228delinsAC ENSP00000491062.1:n.2227_2228delinsAC
ENST00000374574.2:c.1586+3073_1586+3074delinsAC ENSP00000363702.2:n.1586+3073_1586+3074delinsAC
ENST00000374580.8:c.2296_2297delinsAC ENSP00000363708.4:p.Thr766=
NM_001204.6:c.2296_2297delinsAC , LRG_712t1:c.2296_2297delinsAC NP_001195.2:p.Thr766=
XM_011511687.1:c.2296_2297delinsAC XP_011509989.1:p.Thr766=
XM_011511688.1:c.1586+3073_1586+3074delinsAC XP_011509990.1:n.1586+3073_1586+3074delinsAC
NM_001204.7:c.2296_2297delinsAC MANE Select NP_001195.2:p.Thr766=