Canonical Allele Identifier: CA64016822
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1587771
ClinVar RCV Id: RCV002103536
dbSNP Id: rs1037042104
gnomAD v2: 2-203384911-A-G
gnomAD v4: 2-202520188-A-G
MyVariant Identifiers: chr2:g.203384911A>G (hg19) chr2:g.202520188A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520188A>G , CM000664.2:g.202520188A>G GRCh38
NC_000002.11:g.203384911A>G , CM000664.1:g.203384911A>G GRCh37
NC_000002.10:g.203093156A>G NCBI36
NG_009363.1:g.148862A>G , LRG_712:g.148862A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.954A>G MANE Select ENSP00000363708.4:p.Glu318=
ENST00000638587.1:c.885A>G ENSP00000491062.1:p.Glu295=
ENST00000374574.2:c.954A>G ENSP00000363702.2:p.Glu318=
ENST00000374580.8:c.954A>G ENSP00000363708.4:p.Glu318=
NM_001204.6:c.954A>G , LRG_712t1:c.954A>G NP_001195.2:p.Glu318=
XM_011511687.1:c.954A>G XP_011509989.1:p.Glu318=
XM_011511688.1:c.954A>G XP_011509990.1:p.Glu318=
NM_001204.7:c.954A>G MANE Select NP_001195.2:p.Glu318=
Search 100 bp 5'
Search 100 bp 3'