Canonical Allele Identifier: CA2662706302
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202532550-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532558_202532559del , CM000664.2:g.202532558_202532559del GRCh38
NC_000002.11:g.203397281_203397282del , CM000664.1:g.203397281_203397282del GRCh37
NC_000002.10:g.203105526_203105527del NCBI36
NG_009363.1:g.161232_161233del , LRG_712:g.161232_161233del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1129-27_1129-26del MANE Select ENSP00000363708.4:n.1129-27_1129-26del
ENST00000638587.1:c.1060-27_1060-26del ENSP00000491062.1:n.1060-27_1060-26del
ENST00000374574.2:c.1129-27_1129-26del ENSP00000363702.2:n.1129-27_1129-26del
ENST00000374580.8:c.1129-27_1129-26del ENSP00000363708.4:n.1129-27_1129-26del
NM_001204.6:c.1129-27_1129-26del , LRG_712t1:c.1129-27_1129-26del NP_001195.2:n.1129-27_1129-26del
XM_011511687.1:c.1129-27_1129-26del XP_011509989.1:n.1129-27_1129-26del
XM_011511688.1:c.1129-27_1129-26del XP_011509990.1:n.1129-27_1129-26del
NM_001204.7:c.1129-27_1129-26del MANE Select NP_001195.2:n.1129-27_1129-26del
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