Canonical Allele Identifier: CA645293999
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425725
ClinVar RCV Id: RCV000488761
dbSNP Id: rs1085307183
MyVariant Identifiers: chr2:g.203329695_203329696insT (hg19) chr2:g.202464972_202464973insT (hg38)
PubMed: PMID:20496075 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464972_202464973insT , CM000664.2:g.202464972_202464973insT GRCh38
NC_000002.11:g.203329695_203329696insT , CM000664.1:g.203329695_203329696insT GRCh37
NC_000002.10:g.203037940_203037941insT NCBI36
NG_009363.1:g.93646_93647insT , LRG_712:g.93646_93647insT

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.240_241insT MANE Select ENSP00000363708.4:p.Lys81Ter
ENST00000638587.1:c.165_166insT ENSP00000491062.1:p.Lys56Ter
ENST00000374574.2:c.240_241insT ENSP00000363702.2:p.Lys81Ter
ENST00000374580.8:c.240_241insT ENSP00000363708.4:p.Lys81Ter
ENST00000479069.1:n.147_148insT
NM_001204.6:c.240_241insT , LRG_712t1:c.240_241insT NP_001195.2:p.Lys81Ter
XM_011511687.1:c.240_241insT XP_011509989.1:p.Lys81Ter
XM_011511688.1:c.240_241insT XP_011509990.1:p.Lys81Ter
NM_001204.7:c.240_241insT MANE Select NP_001195.2:p.Lys81Ter
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