Canonical Allele Identifier: CA1321515048
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202472289G= , CM000664.2:g.202472289G= GRCh38
NC_000002.11:g.203337012G= , CM000664.1:g.203337012G= GRCh37
NC_000002.10:g.203045257G= NCBI36
NG_009363.1:g.100963G= , LRG_712:g.100963G=

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.418+4600G= MANE Select ENSP00000363708.4:n.418+4600G=
ENST00000638587.1:c.349+4600G= ENSP00000491062.1:n.349+4600G=
ENST00000374574.2:c.418+4600G= ENSP00000363702.2:n.418+4600G=
ENST00000374580.8:c.418+4600G= ENSP00000363708.4:n.418+4600G=
ENST00000479069.1:n.326-2419G=
NM_001204.6:c.418+4600G= , LRG_712t1:c.418+4600G= NP_001195.2:n.418+4600G=
XM_011511687.1:c.418+4600G= XP_011509989.1:n.418+4600G=
XM_011511688.1:c.418+4600G= XP_011509990.1:n.418+4600G=
NM_001204.7:c.418+4600G= MANE Select NP_001195.2:n.418+4600G=