Canonical Allele Identifier: CA1321544912
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530849_202530850delinsGA , CM000664.2:g.202530849_202530850delinsGA GRCh38
NC_000002.11:g.203395572_203395573delinsGA , CM000664.1:g.203395572_203395573delinsGA GRCh37
NC_000002.10:g.203103817_203103818delinsGA NCBI36
NG_009363.1:g.159523_159524delinsGA , LRG_712:g.159523_159524delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1023_1024delinsGA MANE Select ENSP00000363708.4:p.Val341=
ENST00000638587.1:c.954_955delinsGA ENSP00000491062.1:p.Val318=
ENST00000374574.2:c.1023_1024delinsGA ENSP00000363702.2:p.Val341=
ENST00000374580.8:c.1023_1024delinsGA ENSP00000363708.4:p.Val341=
NM_001204.6:c.1023_1024delinsGA , LRG_712t1:c.1023_1024delinsGA NP_001195.2:p.Val341=
XM_011511687.1:c.1023_1024delinsGA XP_011509989.1:p.Val341=
XM_011511688.1:c.1023_1024delinsGA XP_011509990.1:p.Val341=
NM_001204.7:c.1023_1024delinsGA MANE Select NP_001195.2:p.Val341=
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