Canonical Allele Identifier: CA350344619
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1333244766

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552786A>G , CM000664.2:g.202552786A>G GRCh38
NC_000002.11:g.203417509A>G , CM000664.1:g.203417509A>G GRCh37
NC_000002.10:g.203125754A>G NCBI36
NG_009363.1:g.181460A>G , LRG_712:g.181460A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1484A>G MANE Select ENSP00000363708.4:p.Gln495Arg
ENST00000638587.1:c.1415A>G ENSP00000491062.1:p.Gln472Arg
ENST00000374574.2:c.1484A>G ENSP00000363702.2:p.Gln495Arg
ENST00000374580.8:c.1484A>G ENSP00000363708.4:p.Gln495Arg
NM_001204.6:c.1484A>G , LRG_712t1:c.1484A>G NP_001195.2:p.Gln495Arg
XM_011511687.1:c.1484A>G XP_011509989.1:p.Gln495Arg
XM_011511688.1:c.1484A>G XP_011509990.1:p.Gln495Arg
NM_001204.7:c.1484A>G MANE Select NP_001195.2:p.Gln495Arg