Canonical Allele Identifier: CA645293842
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425922
ClinVar RCV Id: RCV000488627
dbSNP Id: rs1085307334

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542319_202542320insGGATT , CM000664.2:g.202542319_202542320insGGATT GRCh38
NC_000002.11:g.203407042_203407043insGGATT , CM000664.1:g.203407042_203407043insGGATT GRCh37
NC_000002.10:g.203115287_203115288insGGATT NCBI36
NG_009363.1:g.170993_170994insGGATT , LRG_712:g.170993_170994insGGATT

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1285_1286insGGATT MANE Select ENSP00000363708.4:p.Val429GlyfsTer?
ENST00000638587.1:c.1216_1217insGGATT ENSP00000491062.1:p.Val406GlyfsTer?
ENST00000374574.2:c.1285_1286insGGATT ENSP00000363702.2:p.Val429GlyfsTer?
ENST00000374580.8:c.1285_1286insGGATT ENSP00000363708.4:p.Val429GlyfsTer?
NM_001204.6:c.1285_1286insGGATT , LRG_712t1:c.1285_1286insGGATT NP_001195.2:p.Val429GlyfsTer?
XM_011511687.1:c.1285_1286insGGATT XP_011509989.1:p.Val429GlyfsTer?
XM_011511688.1:c.1285_1286insGGATT XP_011509990.1:p.Val429GlyfsTer?
NM_001204.7:c.1285_1286insGGATT MANE Select NP_001195.2:p.Val429GlyfsTer?