Canonical Allele Identifier: CA2061035
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500767
ClinVar RCV Id: RCV003225679
dbSNP Id: rs747740309
ExAC: 2:203329544 A / G
gnomAD v2: 2-203329544-A-G
MyVariant Identifiers: chr2:g.203329544A>G (hg19) chr2:g.202464821A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464821A>G , CM000664.2:g.202464821A>G GRCh38
NC_000002.11:g.203329544A>G , CM000664.1:g.203329544A>G GRCh37
NC_000002.10:g.203037789A>G NCBI36
NG_009363.1:g.93495A>G , LRG_712:g.93495A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.89A>G MANE Select ENSP00000363708.4:p.Gln30Arg
ENST00000638587.1:c.14A>G ENSP00000491062.1:p.Gln5Arg
ENST00000374574.2:c.89A>G ENSP00000363702.2:p.Gln30Arg
ENST00000374580.8:c.89A>G ENSP00000363708.4:p.Gln30Arg
NM_001204.6:c.89A>G , LRG_712t1:c.89A>G NP_001195.2:p.Gln30Arg
XM_011511687.1:c.89A>G XP_011509989.1:p.Gln30Arg
XM_011511688.1:c.89A>G XP_011509990.1:p.Gln30Arg
NM_001204.7:c.89A>G MANE Select NP_001195.2:p.Gln30Arg
Search 100 bp 5'
Search 100 bp 3'