Canonical Allele Identifier: CA645293991
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307169
MyVariant Identifiers: chr2:g.203329611_203329612del (hg19) chr2:g.202464888_202464889del (hg38)
PubMed: PMID:11115378 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464888_202464889del , CM000664.2:g.202464888_202464889del GRCh38
NC_000002.11:g.203329611_203329612del , CM000664.1:g.203329611_203329612del GRCh37
NC_000002.10:g.203037856_203037857del NCBI36
NG_009363.1:g.93562_93563del , LRG_712:g.93562_93563del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.156_157del MANE Select ENSP00000363708.4:p.His53Ter
ENST00000638587.1:c.81_82del ENSP00000491062.1:p.His28Ter
ENST00000374574.2:c.156_157del ENSP00000363702.2:p.His53Ter
ENST00000374580.8:c.156_157del ENSP00000363708.4:p.His53Ter
ENST00000479069.1:n.63_64del
NM_001204.6:c.156_157del , LRG_712t1:c.156_157del NP_001195.2:p.His53Ter
XM_011511687.1:c.156_157del XP_011509989.1:p.His53Ter
XM_011511688.1:c.156_157del XP_011509990.1:p.His53Ter
NM_001204.7:c.156_157del MANE Select NP_001195.2:p.His53Ter
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