Canonical Allele Identifier: CA350399334
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425712
ClinVar RCV Id: RCV000488506
dbSNP Id: rs1085307172
MyVariant Identifiers: chr2:g.203329634G>A (hg19) chr2:g.202464911G>A (hg38)
PubMed: PMID:11015450 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464911G>A , CM000664.2:g.202464911G>A GRCh38
NC_000002.11:g.203329634G>A , CM000664.1:g.203329634G>A GRCh37
NC_000002.10:g.203037879G>A NCBI36
NG_009363.1:g.93585G>A , LRG_712:g.93585G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.179G>A MANE Select ENSP00000363708.4:p.Cys60Tyr
ENST00000638587.1:c.104G>A ENSP00000491062.1:p.Cys35Tyr
ENST00000374574.2:c.179G>A ENSP00000363702.2:p.Cys60Tyr
ENST00000374580.8:c.179G>A ENSP00000363708.4:p.Cys60Tyr
ENST00000479069.1:n.86G>A
NM_001204.6:c.179G>A , LRG_712t1:c.179G>A NP_001195.2:p.Cys60Tyr
XM_011511687.1:c.179G>A XP_011509989.1:p.Cys60Tyr
XM_011511688.1:c.179G>A XP_011509990.1:p.Cys60Tyr
NM_001204.7:c.179G>A MANE Select NP_001195.2:p.Cys60Tyr
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