Canonical Allele Identifier: CA2577215754
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2418007
ClinVar RCV Id: RCV003118116
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556290del , CM000664.2:g.202556290del GRCh38
NC_000002.11:g.203421013del , CM000664.1:g.203421013del GRCh37
NC_000002.10:g.203129258del NCBI36
NG_009363.1:g.184964del , LRG_712:g.184964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2625del MANE Select ENSP00000363708.4:p.Gln875HisfsTer21
ENST00000638587.1:c.2556del ENSP00000491062.1:n.2556del
ENST00000374574.2:c.1586+3402del ENSP00000363702.2:n.1586+3402del
ENST00000374580.8:c.2625del ENSP00000363708.4:p.Gln875HisfsTer21
NM_001204.6:c.2625del , LRG_712t1:c.2625del NP_001195.2:p.Gln875HisfsTer21
XM_011511687.1:c.2625del XP_011509989.1:p.Gln875HisfsTer21
XM_011511688.1:c.1586+3402del XP_011509990.1:n.1586+3402del
NM_001204.7:c.2625del MANE Select NP_001195.2:p.Gln875HisfsTer21
Search 100 bp 5'
Search 100 bp 3'