Canonical Allele Identifier: CA1321550628
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542400_202542401delinsGA , CM000664.2:g.202542400_202542401delinsGA GRCh38
NC_000002.11:g.203407123_203407124delinsGA , CM000664.1:g.203407123_203407124delinsGA GRCh37
NC_000002.10:g.203115368_203115369delinsGA NCBI36
NG_009363.1:g.171074_171075delinsGA , LRG_712:g.171074_171075delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1366_1367delinsGA MANE Select ENSP00000363708.4:p.Glu456=
ENST00000638587.1:c.1297_1298delinsGA ENSP00000491062.1:p.Glu433=
ENST00000374574.2:c.1366_1367delinsGA ENSP00000363702.2:p.Glu456=
ENST00000374580.8:c.1366_1367delinsGA ENSP00000363708.4:p.Glu456=
NM_001204.6:c.1366_1367delinsGA , LRG_712t1:c.1366_1367delinsGA NP_001195.2:p.Glu456=
XM_011511687.1:c.1366_1367delinsGA XP_011509989.1:p.Glu456=
XM_011511688.1:c.1366_1367delinsGA XP_011509990.1:p.Glu456=
NM_001204.7:c.1366_1367delinsGA MANE Select NP_001195.2:p.Glu456=
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