Canonical Allele Identifier: CA1321559829
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556189_202556190delinsAG , CM000664.2:g.202556189_202556190delinsAG GRCh38
NC_000002.11:g.203420912_203420913delinsAG , CM000664.1:g.203420912_203420913delinsAG GRCh37
NC_000002.10:g.203129157_203129158delinsAG NCBI36
NG_009363.1:g.184863_184864delinsAG , LRG_712:g.184863_184864delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2524_2525delinsAG MANE Select ENSP00000363708.4:p.Arg842=
ENST00000638587.1:c.2455_2456delinsAG ENSP00000491062.1:n.2455_2456delinsAG
ENST00000374574.2:c.1586+3301_1586+3302delinsAG ENSP00000363702.2:n.1586+3301_1586+3302delinsAG
ENST00000374580.8:c.2524_2525delinsAG ENSP00000363708.4:p.Arg842=
NM_001204.6:c.2524_2525delinsAG , LRG_712t1:c.2524_2525delinsAG NP_001195.2:p.Arg842=
XM_011511687.1:c.2524_2525delinsAG XP_011509989.1:p.Arg842=
XM_011511688.1:c.1586+3301_1586+3302delinsAG XP_011509990.1:n.1586+3301_1586+3302delinsAG
NM_001204.7:c.2524_2525delinsAG MANE Select NP_001195.2:p.Arg842=