Canonical Allele Identifier: CA119941
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8819
dbSNP Id: rs137852756

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542331C>T , CM000664.2:g.202542331C>T GRCh38
NC_000002.11:g.203407054C>T , CM000664.1:g.203407054C>T GRCh37
NC_000002.10:g.203115299C>T NCBI36
NG_009363.1:g.171005C>T , LRG_712:g.171005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1297C>T MANE Select ENSP00000363708.4:p.Gln433Ter
ENST00000638587.1:c.1228C>T ENSP00000491062.1:p.Gln410Ter
ENST00000374574.2:c.1297C>T ENSP00000363702.2:p.Gln433Ter
ENST00000374580.8:c.1297C>T ENSP00000363708.4:p.Gln433Ter
NM_001204.6:c.1297C>T , LRG_712t1:c.1297C>T NP_001195.2:p.Gln433Ter
XM_011511687.1:c.1297C>T XP_011509989.1:p.Gln433Ter
XM_011511688.1:c.1297C>T XP_011509990.1:p.Gln433Ter
NM_001204.7:c.1297C>T MANE Select NP_001195.2:p.Gln433Ter