Canonical Allele Identifier: CA538972634
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1325683164
gnomAD v2: 2-203383850-T-TAAGGCAGGTGGATCACTTGAGGCC
gnomAD v3: 2-202519127-T-TAAGGCAGGTGGATCACTTGAGGCC
gnomAD v4: 2-202519127-T-TAAGGCAGGTGGATCACTTGAGGCC
MyVariant Identifiers: chr2:g.203383850_203383851insAAGGCAGGTGGATCACTTGAGGCC (hg19) chr2:g.202519127_202519128insAAGGCAGGTGGATCACTTGAGGCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519131_202519154dup , CM000664.2:g.202519131_202519154dup GRCh38
NC_000002.11:g.203383854_203383877dup , CM000664.1:g.203383854_203383877dup GRCh37
NC_000002.10:g.203092099_203092122dup NCBI36
NG_009363.1:g.147805_147828dup , LRG_712:g.147805_147828dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+79_852+102dup MANE Select ENSP00000363708.4:n.852+79_852+102dup
ENST00000638587.1:c.783+79_783+102dup ENSP00000491062.1:n.783+79_783+102dup
ENST00000374574.2:c.852+79_852+102dup ENSP00000363702.2:n.852+79_852+102dup
ENST00000374580.8:c.852+79_852+102dup ENSP00000363708.4:n.852+79_852+102dup
NM_001204.6:c.852+79_852+102dup , LRG_712t1:c.852+79_852+102dup NP_001195.2:n.852+79_852+102dup
XM_011511687.1:c.852+79_852+102dup XP_011509989.1:n.852+79_852+102dup
XM_011511688.1:c.852+79_852+102dup XP_011509990.1:n.852+79_852+102dup
NM_001204.7:c.852+79_852+102dup MANE Select NP_001195.2:n.852+79_852+102dup
Search 100 bp 5'
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