Canonical Allele Identifier: CA278072
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8797
dbSNP Id: rs137852742

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464950C>G , CM000664.2:g.202464950C>G GRCh38
NC_000002.11:g.203329673C>G , CM000664.1:g.203329673C>G GRCh37
NC_000002.10:g.203037918C>G NCBI36
NG_009363.1:g.93624C>G , LRG_712:g.93624C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.218C>G MANE Select ENSP00000363708.4:p.Ser73Ter
ENST00000638587.1:c.143C>G ENSP00000491062.1:p.Ser48Ter
ENST00000374574.2:c.218C>G ENSP00000363702.2:p.Ser73Ter
ENST00000374580.8:c.218C>G ENSP00000363708.4:p.Ser73Ter
ENST00000479069.1:n.125C>G
NM_001204.6:c.218C>G , LRG_712t1:c.218C>G NP_001195.2:p.Ser73Ter
XM_011511687.1:c.218C>G XP_011509989.1:p.Ser73Ter
XM_011511688.1:c.218C>G XP_011509990.1:p.Ser73Ter
NM_001204.7:c.218C>G MANE Select NP_001195.2:p.Ser73Ter