Canonical Allele Identifier: CA1321550555
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542246_202542247delinsCT , CM000664.2:g.202542246_202542247delinsCT GRCh38
NC_000002.11:g.203406969_203406970delinsCT , CM000664.1:g.203406969_203406970delinsCT GRCh37
NC_000002.10:g.203115214_203115215delinsCT NCBI36
NG_009363.1:g.170920_170921delinsCT , LRG_712:g.170920_170921delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1277-65_1277-64delinsCT MANE Select ENSP00000363708.4:n.1277-65_1277-64delins...
ENST00000638587.1:c.1208-65_1208-64delinsCT ENSP00000491062.1:n.1208-65_1208-64delins...
ENST00000374574.2:c.1277-65_1277-64delinsCT ENSP00000363702.2:n.1277-65_1277-64delins...
ENST00000374580.8:c.1277-65_1277-64delinsCT ENSP00000363708.4:n.1277-65_1277-64delins...
NM_001204.6:c.1277-65_1277-64delinsCT , LRG_712t1:c.1277-65_1277-64delinsCT NP_001195.2:n.1277-65_1277-64delinsCT
XM_011511687.1:c.1277-65_1277-64delinsCT XP_011509989.1:n.1277-65_1277-64delinsCT
XM_011511688.1:c.1277-65_1277-64delinsCT XP_011509990.1:n.1277-65_1277-64delinsCT
NM_001204.7:c.1277-65_1277-64delinsCT MANE Select NP_001195.2:n.1277-65_1277-64delinsCT
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