Canonical Allele Identifier: CA645293848
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425932
ClinVar RCV Id: RCV000488594
dbSNP Id: rs1085307343
MyVariant Identifiers: chr2:g.203407144_203407145insA (hg19) chr2:g.202542421_202542422insA (hg38)
PubMed: PMID:21801371 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542421_202542422insA , CM000664.2:g.202542421_202542422insA GRCh38
NC_000002.11:g.203407144_203407145insA , CM000664.1:g.203407144_203407145insA GRCh37
NC_000002.10:g.203115389_203115390insA NCBI36
NG_009363.1:g.171095_171096insA , LRG_712:g.171095_171096insA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1387_1388insA MANE Select ENSP00000363708.4:p.Pro463HisfsTer8
ENST00000638587.1:c.1318_1319insA ENSP00000491062.1:p.Pro440HisfsTer8
ENST00000374574.2:c.1387_1388insA ENSP00000363702.2:p.Pro463HisfsTer8
ENST00000374580.8:c.1387_1388insA ENSP00000363708.4:p.Pro463HisfsTer8
NM_001204.6:c.1387_1388insA , LRG_712t1:c.1387_1388insA NP_001195.2:p.Pro463HisfsTer8
XM_011511687.1:c.1387_1388insA XP_011509989.1:p.Pro463HisfsTer8
XM_011511688.1:c.1387_1388insA XP_011509990.1:p.Pro463HisfsTer8
NM_001204.7:c.1387_1388insA MANE Select NP_001195.2:p.Pro463HisfsTer8
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