Canonical Allele Identifier: CA1321539726
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518992_202518996delinsTGAGA , CM000664.2:g.202518992_202518996delinsTGAGA GRCh38
NC_000002.11:g.203383715_203383719delinsTGAGA , CM000664.1:g.203383715_203383719delinsTGAGA GRCh37
NC_000002.10:g.203091960_203091964delinsTGAGA NCBI36
NG_009363.1:g.147666_147670delinsTGAGA , LRG_712:g.147666_147670delinsTGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.792_796delinsTGAGA MANE Select ENSP00000363708.4:p.Asp264=
ENST00000638587.1:c.723_727delinsTGAGA ENSP00000491062.1:p.Asp241=
ENST00000374574.2:c.792_796delinsTGAGA ENSP00000363702.2:p.Asp264=
ENST00000374580.8:c.792_796delinsTGAGA ENSP00000363708.4:p.Asp264=
NM_001204.6:c.792_796delinsTGAGA , LRG_712t1:c.792_796delinsTGAGA NP_001195.2:p.Asp264=
XM_011511687.1:c.792_796delinsTGAGA XP_011509989.1:p.Asp264=
XM_011511688.1:c.792_796delinsTGAGA XP_011509990.1:p.Asp264=
NM_001204.7:c.792_796delinsTGAGA MANE Select NP_001195.2:p.Asp264=
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