Canonical Allele Identifier: CA1321559769
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556164_202556168delinsCCAAA , CM000664.2:g.202556164_202556168delinsCCAAA GRCh38
NC_000002.11:g.203420887_203420891delinsCCAAA , CM000664.1:g.203420887_203420891delinsCCAAA GRCh37
NC_000002.10:g.203129132_203129136delinsCCAAA NCBI36
NG_009363.1:g.184838_184842delinsCCAAA , LRG_712:g.184838_184842delinsCCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2499_2503delinsCCAAA MANE Select ENSP00000363708.4:p.Gly833=
ENST00000638587.1:c.2430_2434delinsCCAAA ENSP00000491062.1:n.2430_2434delinsCCAAA
ENST00000374574.2:c.1586+3276_1586+3280delinsCCAAA ENSP00000363702.2:n.1586+3276_1586+3280delinsCCAAA
ENST00000374580.8:c.2499_2503delinsCCAAA ENSP00000363708.4:p.Gly833=
NM_001204.6:c.2499_2503delinsCCAAA , LRG_712t1:c.2499_2503delinsCCAAA NP_001195.2:p.Gly833=
XM_011511687.1:c.2499_2503delinsCCAAA XP_011509989.1:p.Gly833=
XM_011511688.1:c.1586+3276_1586+3280delinsCCAAA XP_011509990.1:n.1586+3276_1586+3280delinsCCAAA
NM_001204.7:c.2499_2503delinsCCAAA MANE Select NP_001195.2:p.Gly833=