Canonical Allele Identifier: CA350349774
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426007
ClinVar RCV Id: RCV000488859
dbSNP Id: rs1085307402

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556454C>G , CM000664.2:g.202556454C>G GRCh38
NC_000002.11:g.203421177C>G , CM000664.1:g.203421177C>G GRCh37
NC_000002.10:g.203129422C>G NCBI36
NG_009363.1:g.185128C>G , LRG_712:g.185128C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2789C>G MANE Select ENSP00000363708.4:p.Ser930Ter
ENST00000638587.1:c.2720C>G ENSP00000491062.1:n.2720C>G
ENST00000374574.2:c.1587-3242C>G ENSP00000363702.2:n.1587-3242C>G
ENST00000374580.8:c.2789C>G ENSP00000363708.4:p.Ser930Ter
NM_001204.6:c.2789C>G , LRG_712t1:c.2789C>G NP_001195.2:p.Ser930Ter
XM_011511687.1:c.2789C>G XP_011509989.1:p.Ser930Ter
XM_011511688.1:c.1587-3242C>G XP_011509990.1:n.1587-3242C>G
NM_001204.7:c.2789C>G MANE Select NP_001195.2:p.Ser930Ter