Canonical Allele Identifier: CA915941662
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812839
ClinVar RCV Id: RCV001003734
dbSNP Id: rs1574506799
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555692_202555695dup , CM000664.2:g.202555692_202555695dup GRCh38
NC_000002.11:g.203420415_203420418dup , CM000664.1:g.203420415_203420418dup GRCh37
NC_000002.10:g.203128660_203128663dup NCBI36
NG_009363.1:g.184366_184369dup , LRG_712:g.184366_184369dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2027_2030dup MANE Select ENSP00000363708.4:p.Lys678ProfsTer6
ENST00000638587.1:c.1958_1961dup ENSP00000491062.1:n.1958_1961dup
ENST00000374574.2:c.1586+2804_1586+2807dup ENSP00000363702.2:n.1586+2804_1586+2807dup
ENST00000374580.8:c.2027_2030dup ENSP00000363708.4:p.Lys678ProfsTer6
NM_001204.6:c.2027_2030dup , LRG_712t1:c.2027_2030dup NP_001195.2:p.Lys678ProfsTer6
XM_011511687.1:c.2027_2030dup XP_011509989.1:p.Lys678ProfsTer6
XM_011511688.1:c.1586+2804_1586+2807dup XP_011509990.1:n.1586+2804_1586+2807dup
NM_001204.7:c.2027_2030dup MANE Select NP_001195.2:p.Lys678ProfsTer6
Search 100 bp 5'
Search 100 bp 3'