Canonical Allele Identifier: CA1321510685
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467669_202467670delinsCT , CM000664.2:g.202467669_202467670delinsCT GRCh38
NC_000002.11:g.203332392_203332393delinsCT , CM000664.1:g.203332392_203332393delinsCT GRCh37
NC_000002.10:g.203040637_203040638delinsCT NCBI36
NG_009363.1:g.96343_96344delinsCT , LRG_712:g.96343_96344delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.398_399delinsCT MANE Select ENSP00000363708.4:p.Pro133=
ENST00000638587.1:c.329_330delinsCT ENSP00000491062.1:p.Pro110=
ENST00000374574.2:c.398_399delinsCT ENSP00000363702.2:p.Pro133=
ENST00000374580.8:c.398_399delinsCT ENSP00000363708.4:p.Pro133=
ENST00000479069.1:n.305_306delinsCT
NM_001204.6:c.398_399delinsCT , LRG_712t1:c.398_399delinsCT NP_001195.2:p.Pro133=
XM_011511687.1:c.398_399delinsCT XP_011509989.1:p.Pro133=
XM_011511688.1:c.398_399delinsCT XP_011509990.1:p.Pro133=
NM_001204.7:c.398_399delinsCT MANE Select NP_001195.2:p.Pro133=