Canonical Allele Identifier: CA1041346510
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688019779
gnomAD v3: 2-202531148-CA-C
gnomAD v4: 2-202531148-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202531153del , CM000664.2:g.202531153del GRCh38
NC_000002.11:g.203395876del , CM000664.1:g.203395876del GRCh37
NC_000002.10:g.203104121del NCBI36
NG_009363.1:g.159827del , LRG_712:g.159827del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1128+199del MANE Select ENSP00000363708.4:n.1128+199del
ENST00000638587.1:c.1059+199del ENSP00000491062.1:n.1059+199del
ENST00000374574.2:c.1128+199del ENSP00000363702.2:n.1128+199del
ENST00000374580.8:c.1128+199del ENSP00000363708.4:n.1128+199del
NM_001204.6:c.1128+199del , LRG_712t1:c.1128+199del NP_001195.2:n.1128+199del
XM_011511687.1:c.1128+199del XP_011509989.1:n.1128+199del
XM_011511688.1:c.1128+199del XP_011509990.1:n.1128+199del
NM_001204.7:c.1128+199del MANE Select NP_001195.2:n.1128+199del
Search 100 bp 5'
Search 100 bp 3'