Canonical Allele Identifier: CA64029555
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425893
ClinVar RCV Id: RCV002527014
dbSNP Id: rs946132834
COSMIC: COSM4443390
MyVariant Identifiers: chr2:g.203397386C>T (hg19) chr2:g.202532663C>T (hg38)
PubMed: PMID:12139571 PMID:15146475 PMID:18159113 PMID:23675998 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532663C>T , CM000664.2:g.202532663C>T GRCh38
NC_000002.11:g.203397386C>T , CM000664.1:g.203397386C>T GRCh37
NC_000002.10:g.203105631C>T NCBI36
NG_009363.1:g.161337C>T , LRG_712:g.161337C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1207C>T MANE Select ENSP00000363708.4:p.Gln403Ter
ENST00000638587.1:c.1138C>T ENSP00000491062.1:p.Gln380Ter
ENST00000374574.2:c.1207C>T ENSP00000363702.2:p.Gln403Ter
ENST00000374580.8:c.1207C>T ENSP00000363708.4:p.Gln403Ter
NM_001204.6:c.1207C>T , LRG_712t1:c.1207C>T NP_001195.2:p.Gln403Ter
XM_011511687.1:c.1207C>T XP_011509989.1:p.Gln403Ter
XM_011511688.1:c.1207C>T XP_011509990.1:p.Gln403Ter
NM_001204.7:c.1207C>T MANE Select NP_001195.2:p.Gln403Ter
Search 100 bp 5'
Search 100 bp 3'