Canonical Allele Identifier: CA2662706770
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202555554-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555555dup , CM000664.2:g.202555555dup GRCh38
NC_000002.11:g.203420278dup , CM000664.1:g.203420278dup GRCh37
NC_000002.10:g.203128523dup NCBI36
NG_009363.1:g.184229dup , LRG_712:g.184229dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1890dup MANE Select ENSP00000363708.4:p.Glu631Ter
ENST00000638587.1:c.1821dup ENSP00000491062.1:n.1821dup
ENST00000374574.2:c.1586+2667dup ENSP00000363702.2:n.1586+2667dup
ENST00000374580.8:c.1890dup ENSP00000363708.4:p.Glu631Ter
NM_001204.6:c.1890dup , LRG_712t1:c.1890dup NP_001195.2:p.Glu631Ter
XM_011511687.1:c.1890dup XP_011509989.1:p.Glu631Ter
XM_011511688.1:c.1586+2667dup XP_011509990.1:n.1586+2667dup
NM_001204.7:c.1890dup MANE Select NP_001195.2:p.Glu631Ter
Search 100 bp 5'
Search 100 bp 3'