Canonical Allele Identifier: CA2662706471
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202542492-ATGTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542494_202542497del , CM000664.2:g.202542494_202542497del GRCh38
NC_000002.11:g.203407217_203407220del , CM000664.1:g.203407217_203407220del GRCh37
NC_000002.10:g.203115462_203115465del NCBI36
NG_009363.1:g.171168_171171del , LRG_712:g.171168_171171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1413+47_1413+50del MANE Select ENSP00000363708.4:n.1413+47_1413+50del
ENST00000638587.1:c.1344+47_1344+50del ENSP00000491062.1:n.1344+47_1344+50del
ENST00000374574.2:c.1413+47_1413+50del ENSP00000363702.2:n.1413+47_1413+50del
ENST00000374580.8:c.1413+47_1413+50del ENSP00000363708.4:n.1413+47_1413+50del
NM_001204.6:c.1413+47_1413+50del , LRG_712t1:c.1413+47_1413+50del NP_001195.2:n.1413+47_1413+50del
XM_011511687.1:c.1413+47_1413+50del XP_011509989.1:n.1413+47_1413+50del
XM_011511688.1:c.1413+47_1413+50del XP_011509990.1:n.1413+47_1413+50del
NM_001204.7:c.1413+47_1413+50del MANE Select NP_001195.2:n.1413+47_1413+50del
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