Canonical Allele Identifier: CA2499215576
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069537
dbSNP Id: rs2105712248

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556115_202556116del , CM000664.2:g.202556115_202556116del GRCh38
NC_000002.11:g.203420838_203420839del , CM000664.1:g.203420838_203420839del GRCh37
NC_000002.10:g.203129083_203129084del NCBI36
NG_009363.1:g.184789_184790del , LRG_712:g.184789_184790del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2450_2451del MANE Select ENSP00000363708.4:p.Asn817IlefsTer25
ENST00000638587.1:c.2381_2382del ENSP00000491062.1:n.2381_2382del
ENST00000374574.2:c.1586+3227_1586+3228del ENSP00000363702.2:n.1586+3227_1586+3228del
ENST00000374580.8:c.2450_2451del ENSP00000363708.4:p.Asn817IlefsTer25
NM_001204.6:c.2450_2451del , LRG_712t1:c.2450_2451del NP_001195.2:p.Asn817IlefsTer25
XM_011511687.1:c.2450_2451del XP_011509989.1:p.Asn817IlefsTer25
XM_011511688.1:c.1586+3227_1586+3228del XP_011509990.1:n.1586+3227_1586+3228del
NM_001204.7:c.2450_2451del MANE Select NP_001195.2:p.Asn817IlefsTer25