Canonical Allele Identifier: CA2586971106
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542339_202542341delinsG , CM000664.2:g.202542339_202542341delinsG GRCh38
NC_000002.11:g.203407062_203407064delinsG , CM000664.1:g.203407062_203407064delinsG GRCh37
NC_000002.10:g.203115307_203115309delinsG NCBI36
NG_009363.1:g.171013_171015delinsG , LRG_712:g.171013_171015delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1305_1307delinsG MANE Select ENSP00000363708.4:p.Phe436SerfsTer11
ENST00000638587.1:c.1236_1238delinsG ENSP00000491062.1:p.Phe413SerfsTer11
ENST00000374574.2:c.1305_1307delinsG ENSP00000363702.2:p.Phe436SerfsTer11
ENST00000374580.8:c.1305_1307delinsG ENSP00000363708.4:p.Phe436SerfsTer11
NM_001204.6:c.1305_1307delinsG , LRG_712t1:c.1305_1307delinsG NP_001195.2:p.Phe436SerfsTer11
XM_011511687.1:c.1305_1307delinsG XP_011509989.1:p.Phe436SerfsTer11
XM_011511688.1:c.1305_1307delinsG XP_011509990.1:p.Phe436SerfsTer11
NM_001204.7:c.1305_1307delinsG MANE Select NP_001195.2:p.Phe436SerfsTer11