Canonical Allele Identifier: CA2586965532
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518949_202518965dup , CM000664.2:g.202518949_202518965dup GRCh38
NC_000002.11:g.203383672_203383688dup , CM000664.1:g.203383672_203383688dup GRCh37
NC_000002.10:g.203091917_203091933dup NCBI36
NG_009363.1:g.147623_147639dup , LRG_712:g.147623_147639dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.749_765dup MANE Select ENSP00000363708.4:p.Asn256LeufsTer2
ENST00000638587.1:c.680_696dup ENSP00000491062.1:p.Asn233LeufsTer2
ENST00000374574.2:c.749_765dup ENSP00000363702.2:p.Asn256LeufsTer2
ENST00000374580.8:c.749_765dup ENSP00000363708.4:p.Asn256LeufsTer2
NM_001204.6:c.749_765dup , LRG_712t1:c.749_765dup NP_001195.2:p.Asn256LeufsTer2
XM_011511687.1:c.749_765dup XP_011509989.1:p.Asn256LeufsTer2
XM_011511688.1:c.749_765dup XP_011509990.1:p.Asn256LeufsTer2
NM_001204.7:c.749_765dup MANE Select NP_001195.2:p.Asn256LeufsTer2
Search 100 bp 5'
Search 100 bp 3'