Canonical Allele Identifier: CA10602824
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280019
dbSNP Id: rs886041324
COSMIC: COSM209588

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518837C>T , CM000664.2:g.202518837C>T GRCh38
NC_000002.11:g.203383560C>T , CM000664.1:g.203383560C>T GRCh37
NC_000002.10:g.203091805C>T NCBI36
NG_009363.1:g.147511C>T , LRG_712:g.147511C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.637C>T MANE Select ENSP00000363708.4:p.Arg213Ter
ENST00000638587.1:c.568C>T ENSP00000491062.1:p.Arg190Ter
ENST00000374574.2:c.637C>T ENSP00000363702.2:p.Arg213Ter
ENST00000374580.8:c.637C>T ENSP00000363708.4:p.Arg213Ter
NM_001204.6:c.637C>T , LRG_712t1:c.637C>T NP_001195.2:p.Arg213Ter
XM_011511687.1:c.637C>T XP_011509989.1:p.Arg213Ter
XM_011511688.1:c.637C>T XP_011509990.1:p.Arg213Ter
NM_001204.7:c.637C>T MANE Select NP_001195.2:p.Arg213Ter