Canonical Allele Identifier: CA1321539766
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519095_202519096delinsCT , CM000664.2:g.202519095_202519096delinsCT GRCh38
NC_000002.11:g.203383818_203383819delinsCT , CM000664.1:g.203383818_203383819delinsCT GRCh37
NC_000002.10:g.203092063_203092064delinsCT NCBI36
NG_009363.1:g.147769_147770delinsCT , LRG_712:g.147769_147770delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+43_852+44delinsCT MANE Select ENSP00000363708.4:n.852+43_852+44delinsCT
ENST00000638587.1:c.783+43_783+44delinsCT ENSP00000491062.1:n.783+43_783+44delinsCT
ENST00000374574.2:c.852+43_852+44delinsCT ENSP00000363702.2:n.852+43_852+44delinsCT
ENST00000374580.8:c.852+43_852+44delinsCT ENSP00000363708.4:n.852+43_852+44delinsCT
NM_001204.6:c.852+43_852+44delinsCT , LRG_712t1:c.852+43_852+44delinsCT NP_001195.2:n.852+43_852+44delinsCT
XM_011511687.1:c.852+43_852+44delinsCT XP_011509989.1:n.852+43_852+44delinsCT
XM_011511688.1:c.852+43_852+44delinsCT XP_011509990.1:n.852+43_852+44delinsCT
NM_001204.7:c.852+43_852+44delinsCT MANE Select NP_001195.2:n.852+43_852+44delinsCT
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