Canonical Allele Identifier: CA278093
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8809
ClinVar RCV Id: RCV000009354
dbSNP Id: rs137852750
MyVariant Identifiers: chr2:g.203332361T>A (hg19) chr2:g.202467638T>A (hg38)
PubMed: PMID:11115378
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467638T>A , CM000664.2:g.202467638T>A GRCh38
NC_000002.11:g.203332361T>A , CM000664.1:g.203332361T>A GRCh37
NC_000002.10:g.203040606T>A NCBI36
NG_009363.1:g.96312T>A , LRG_712:g.96312T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.367T>A MANE Select ENSP00000363708.4:p.Cys123Ser
ENST00000638587.1:c.298T>A ENSP00000491062.1:p.Cys100Ser
ENST00000374574.2:c.367T>A ENSP00000363702.2:p.Cys123Ser
ENST00000374580.8:c.367T>A ENSP00000363708.4:p.Cys123Ser
ENST00000479069.1:n.274T>A
NM_001204.6:c.367T>A , LRG_712t1:c.367T>A NP_001195.2:p.Cys123Ser
XM_011511687.1:c.367T>A XP_011509989.1:p.Cys123Ser
XM_011511688.1:c.367T>A XP_011509990.1:p.Cys123Ser
NM_001204.7:c.367T>A MANE Select NP_001195.2:p.Cys123Ser
Search 100 bp 5'
Search 100 bp 3'