Canonical Allele Identifier: CA645294003
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425733
ClinVar RCV Id: RCV000488640 RCV002528225
dbSNP Id: rs1085307191
MyVariant Identifiers: chr2:g.203329708T>G (hg19) chr2:g.202464985T>G (hg38)
PubMed: PMID:16728714 PMID:26387786
ERepo: CA645294003/MONDO:0015924/125
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464985T>G , CM000664.2:g.202464985T>G GRCh38
NC_000002.11:g.203329708T>G , CM000664.1:g.203329708T>G GRCh37
NC_000002.10:g.203037953T>G NCBI36
NG_009363.1:g.93659T>G , LRG_712:g.93659T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.247+6T>G MANE Select ENSP00000363708.4:n.247+6T>G
ENST00000638587.1:c.176+2T>G ENSP00000491062.1:n.176+2T>G
ENST00000374574.2:c.247+6T>G ENSP00000363702.2:n.247+6T>G
ENST00000374580.8:c.247+6T>G ENSP00000363708.4:n.247+6T>G
ENST00000479069.1:n.154+6T>G
NM_001204.6:c.247+6T>G , LRG_712t1:c.247+6T>G NP_001195.2:n.247+6T>G
XM_011511687.1:c.247+6T>G XP_011509989.1:n.247+6T>G
XM_011511688.1:c.247+6T>G XP_011509990.1:n.247+6T>G
NM_001204.7:c.247+6T>G MANE Select NP_001195.2:n.247+6T>G
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