Canonical Allele Identifier: CA645294022
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425781
ClinVar RCV Id: RCV000488829 RCV001003672
dbSNP Id: rs1085307229
MyVariant Identifiers: chr2:g.203332417G>A (hg19) chr2:g.202467694G>A (hg38)
PubMed: PMID:18503968 PMID:19555857 PMID:21801371 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467694G>A , CM000664.2:g.202467694G>A GRCh38
NC_000002.11:g.203332417G>A , CM000664.1:g.203332417G>A GRCh37
NC_000002.10:g.203040662G>A NCBI36
NG_009363.1:g.96368G>A , LRG_712:g.96368G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.418+5G>A MANE Select ENSP00000363708.4:n.418+5G>A
ENST00000638587.1:c.349+5G>A ENSP00000491062.1:n.349+5G>A
ENST00000374574.2:c.418+5G>A ENSP00000363702.2:n.418+5G>A
ENST00000374580.8:c.418+5G>A ENSP00000363708.4:n.418+5G>A
ENST00000479069.1:n.325+5G>A
NM_001204.6:c.418+5G>A , LRG_712t1:c.418+5G>A NP_001195.2:n.418+5G>A
XM_011511687.1:c.418+5G>A XP_011509989.1:n.418+5G>A
XM_011511688.1:c.418+5G>A XP_011509990.1:n.418+5G>A
NM_001204.7:c.418+5G>A MANE Select NP_001195.2:n.418+5G>A
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