Canonical Allele Identifier: CA645293858
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425679
ClinVar RCV Id: RCV000488857
dbSNP Id: rs1085307148

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377495_202377503delinsA , CM000664.2:g.202377495_202377503delinsA GRCh38
NC_000002.11:g.203242218_203242226delinsA , CM000664.1:g.203242218_203242226delinsA GRCh37
NC_000002.10:g.202950463_202950471delinsA NCBI36
NG_009363.1:g.6169_6177delinsA , LRG_712:g.6169_6177delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.21_29delinsA MANE Select ENSP00000363708.4:p.Pro8GlyfsTer27
ENST00000374574.2:c.21_29delinsA ENSP00000363702.2:p.Pro8GlyfsTer27
ENST00000374580.8:c.21_29delinsA ENSP00000363708.4:p.Pro8GlyfsTer27
NM_001204.6:c.21_29delinsA , LRG_712t1:c.21_29delinsA NP_001195.2:p.Pro8GlyfsTer27
XM_011511687.1:c.21_29delinsA XP_011509989.1:p.Pro8GlyfsTer27
XM_011511688.1:c.21_29delinsA XP_011509990.1:p.Pro8GlyfsTer27
NM_001204.7:c.21_29delinsA MANE Select NP_001195.2:p.Pro8GlyfsTer27