Canonical Allele Identifier: CA645293962
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425968
ClinVar RCV Id: RCV000488587
dbSNP Id: rs1085307369
MyVariant Identifiers: chr2:g.203420342_203420343dup (hg19) chr2:g.202555619_202555620dup (hg38)
PubMed: PMID:15146475 PMID:15170098 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555619_202555620dup , CM000664.2:g.202555619_202555620dup GRCh38
NC_000002.11:g.203420342_203420343dup , CM000664.1:g.203420342_203420343dup GRCh37
NC_000002.10:g.203128587_203128588dup NCBI36
NG_009363.1:g.184293_184294dup , LRG_712:g.184293_184294dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1954_1955dup MANE Select ENSP00000363708.4:p.Val654LeufsTer6
ENST00000638587.1:c.1885_1886dup ENSP00000491062.1:n.1885_1886dup
ENST00000374574.2:c.1586+2731_1586+2732dup ENSP00000363702.2:n.1586+2731_1586+2732du...
ENST00000374580.8:c.1954_1955dup ENSP00000363708.4:p.Val654LeufsTer6
NM_001204.6:c.1954_1955dup , LRG_712t1:c.1954_1955dup NP_001195.2:p.Val654LeufsTer6
XM_011511687.1:c.1954_1955dup XP_011509989.1:p.Val654LeufsTer6
XM_011511688.1:c.1586+2731_1586+2732dup XP_011509990.1:n.1586+2731_1586+2732dup
NM_001204.7:c.1954_1955dup MANE Select NP_001195.2:p.Val654LeufsTer6
Search 100 bp 5'
Search 100 bp 3'