Canonical Allele Identifier: CA350338494
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 811173
ClinVar RCV Id: RCV001811584 RCV001823930
dbSNP Id: rs1574486033
gnomAD v4: 2-202513829-G-A
MyVariant Identifiers: chr2:g.203378552G>A (hg19) chr2:g.202513829G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513829G>A , CM000664.2:g.202513829G>A GRCh38
NC_000002.11:g.203378552G>A , CM000664.1:g.203378552G>A GRCh37
NC_000002.10:g.203086797G>A NCBI36
NG_009363.1:g.142503G>A , LRG_712:g.142503G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.529G>A MANE Select ENSP00000363708.4:p.Gly177Arg
ENST00000638587.1:c.460G>A ENSP00000491062.1:p.Gly154Arg
ENST00000374574.2:c.529G>A ENSP00000363702.2:p.Gly177Arg
ENST00000374580.8:c.529G>A ENSP00000363708.4:p.Gly177Arg
NM_001204.6:c.529G>A , LRG_712t1:c.529G>A NP_001195.2:p.Gly177Arg
XM_011511687.1:c.529G>A XP_011509989.1:p.Gly177Arg
XM_011511688.1:c.529G>A XP_011509990.1:p.Gly177Arg
NM_001204.7:c.529G>A MANE Select NP_001195.2:p.Gly177Arg
Search 100 bp 5'
Search 100 bp 3'