Canonical Allele Identifier: CA645293944
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425979
ClinVar RCV Id: RCV000488539
dbSNP Id: rs1085307378

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555962del , CM000664.2:g.202555962del GRCh38
NC_000002.11:g.203420685del , CM000664.1:g.203420685del GRCh37
NC_000002.10:g.203128930del NCBI36
NG_009363.1:g.184636del , LRG_712:g.184636del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2297del MANE Select ENSP00000363708.4:p.Thr766LysfsTer6
ENST00000638587.1:c.2228del ENSP00000491062.1:n.2228del
ENST00000374574.2:c.1586+3074del ENSP00000363702.2:n.1586+3074del
ENST00000374580.8:c.2297del ENSP00000363708.4:p.Thr766LysfsTer6
NM_001204.6:c.2297del , LRG_712t1:c.2297del NP_001195.2:p.Thr766LysfsTer6
XM_011511687.1:c.2297del XP_011509989.1:p.Thr766LysfsTer6
XM_011511688.1:c.1586+3074del XP_011509990.1:n.1586+3074del
NM_001204.7:c.2297del MANE Select NP_001195.2:p.Thr766LysfsTer6