Canonical Allele Identifier: CA2753907248
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556172_202556173insAACCAAACACACC , CM000664.2:g.202556172_202556173insAACCAAACACACC GRCh38
NC_000002.11:g.203420895_203420896insAACCAAACACACC , CM000664.1:g.203420895_203420896insAACCAAACACACC GRCh37
NC_000002.10:g.203129140_203129141insAACCAAACACACC NCBI36
NG_009363.1:g.184846_184847insAACCAAACACACC , LRG_712:g.184846_184847insAACCAAACACACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2507_2508insAACCAAACACACC MANE Select ENSP00000363708.4:p.Asn837ThrfsTer10
ENST00000638587.1:c.2438_2439insAACCAAACACACC ENSP00000491062.1:n.2438_2439insAACCAAACACACC
ENST00000374574.2:c.1586+3284_1586+3285insAACCAAACACACC ENSP00000363702.2:n.1586+3284_1586+3285insAACCAAACACACC
ENST00000374580.8:c.2507_2508insAACCAAACACACC ENSP00000363708.4:p.Asn837ThrfsTer10
NM_001204.6:c.2507_2508insAACCAAACACACC , LRG_712t1:c.2507_2508insAACCAAACACACC NP_001195.2:p.Asn837ThrfsTer10
XM_011511687.1:c.2507_2508insAACCAAACACACC XP_011509989.1:p.Asn837ThrfsTer10
XM_011511688.1:c.1586+3284_1586+3285insAACCAAACACACC XP_011509990.1:n.1586+3284_1586+3285insAACCAAACACACC
NM_001204.7:c.2507_2508insAACCAAACACACC MANE Select NP_001195.2:p.Asn837ThrfsTer10