Canonical Allele Identifier: CA322535
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 212814
ClinVar RCV Id: RCV001386215 RCV002285150
dbSNP Id: rs863223423
MyVariant Identifiers: chr2:g.203329641dupA (hg19) chr2:g.203329641_203329642insA (hg19) chr2:g.202464918dupA (hg38) chr2:g.202464918_202464919insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464918dup , CM000664.2:g.202464918dup GRCh38
NC_000002.11:g.203329641dup , CM000664.1:g.203329641dup GRCh37
NC_000002.10:g.203037886dup NCBI36
NG_009363.1:g.93592dup , LRG_712:g.93592dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.186dup MANE Select ENSP00000363708.4:p.Gly63ArgfsTer2
ENST00000638587.1:c.111dup ENSP00000491062.1:p.Gly38ArgfsTer2
ENST00000374574.2:c.186dup ENSP00000363702.2:p.Gly63ArgfsTer2
ENST00000374580.8:c.186dup ENSP00000363708.4:p.Gly63ArgfsTer2
ENST00000479069.1:n.93dup
NM_001204.6:c.186dup , LRG_712t1:c.186dup NP_001195.2:p.Gly63ArgfsTer2
XM_011511687.1:c.186dup XP_011509989.1:p.Gly63ArgfsTer2
XM_011511688.1:c.186dup XP_011509990.1:p.Gly63ArgfsTer2
NM_001204.7:c.186dup MANE Select NP_001195.2:p.Gly63ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'