Canonical Allele Identifier: CA64012085
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1047237
ClinVar RCV Id: RCV001351917
dbSNP Id: rs893200666
gnomAD v2: 2-203378556-A-G
gnomAD v4: 2-202513833-A-G
MyVariant Identifiers: chr2:g.203378556A>G (hg19) chr2:g.202513833A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513833A>G , CM000664.2:g.202513833A>G GRCh38
NC_000002.11:g.203378556A>G , CM000664.1:g.203378556A>G GRCh37
NC_000002.10:g.203086801A>G NCBI36
NG_009363.1:g.142507A>G , LRG_712:g.142507A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.529+4A>G MANE Select ENSP00000363708.4:n.529+4A>G
ENST00000638587.1:c.460+4A>G ENSP00000491062.1:n.460+4A>G
ENST00000374574.2:c.529+4A>G ENSP00000363702.2:n.529+4A>G
ENST00000374580.8:c.529+4A>G ENSP00000363708.4:n.529+4A>G
NM_001204.6:c.529+4A>G , LRG_712t1:c.529+4A>G NP_001195.2:n.529+4A>G
XM_011511687.1:c.529+4A>G XP_011509989.1:n.529+4A>G
XM_011511688.1:c.529+4A>G XP_011509990.1:n.529+4A>G
NM_001204.7:c.529+4A>G MANE Select NP_001195.2:n.529+4A>G
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