Canonical Allele Identifier: CA538972613
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1192004248
gnomAD v2: 2-203383819-TTA-T
gnomAD v4: 2-202519096-TTA-T
MyVariant Identifiers: chr2:g.203383820_203383821del (hg19) chr2:g.202519097_202519098del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519098_202519099del , CM000664.2:g.202519098_202519099del GRCh38
NC_000002.11:g.203383821_203383822del , CM000664.1:g.203383821_203383822del GRCh37
NC_000002.10:g.203092066_203092067del NCBI36
NG_009363.1:g.147772_147773del , LRG_712:g.147772_147773del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+46_852+47del MANE Select ENSP00000363708.4:n.852+46_852+47del
ENST00000638587.1:c.783+46_783+47del ENSP00000491062.1:n.783+46_783+47del
ENST00000374574.2:c.852+46_852+47del ENSP00000363702.2:n.852+46_852+47del
ENST00000374580.8:c.852+46_852+47del ENSP00000363708.4:n.852+46_852+47del
NM_001204.6:c.852+46_852+47del , LRG_712t1:c.852+46_852+47del NP_001195.2:n.852+46_852+47del
XM_011511687.1:c.852+46_852+47del XP_011509989.1:n.852+46_852+47del
XM_011511688.1:c.852+46_852+47del XP_011509990.1:n.852+46_852+47del
NM_001204.7:c.852+46_852+47del MANE Select NP_001195.2:n.852+46_852+47del
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