Canonical Allele Identifier: CA10587991
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264650
ClinVar RCV Id: RCV000245061 RCV001823882
dbSNP Id: rs886039219
COSMIC: COSM442125
MyVariant Identifiers: chr2:g.203242213C>T (hg19) chr2:g.202377490C>T (hg38)
PubMed: PMID:23579436 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377490C>T , CM000664.2:g.202377490C>T GRCh38
NC_000002.11:g.203242213C>T , CM000664.1:g.203242213C>T GRCh37
NC_000002.10:g.202950458C>T NCBI36
NG_009363.1:g.6164C>T , LRG_712:g.6164C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.16C>T MANE Select ENSP00000363708.4:p.Gln6Ter
ENST00000374574.2:c.16C>T ENSP00000363702.2:p.Gln6Ter
ENST00000374580.8:c.16C>T ENSP00000363708.4:p.Gln6Ter
NM_001204.6:c.16C>T , LRG_712t1:c.16C>T NP_001195.2:p.Gln6Ter
XM_011511687.1:c.16C>T XP_011509989.1:p.Gln6Ter
XM_011511688.1:c.16C>T XP_011509990.1:p.Gln6Ter
NM_001204.7:c.16C>T MANE Select NP_001195.2:p.Gln6Ter
Search 100 bp 5'
Search 100 bp 3'