Canonical Allele Identifier: CA2061252
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3221321
ClinVar RCV Id: RCV004508172
dbSNP Id: rs763429788
ExAC: 2:203384886 G / T
gnomAD v2: 2-203384886-G-T
gnomAD v4: 2-202520163-G-T
MyVariant Identifiers: chr2:g.203384886G>T (hg19) chr2:g.202520163G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520163G>T , CM000664.2:g.202520163G>T GRCh38
NC_000002.11:g.203384886G>T , CM000664.1:g.203384886G>T GRCh37
NC_000002.10:g.203093131G>T NCBI36
NG_009363.1:g.148837G>T , LRG_712:g.148837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.929G>T MANE Select ENSP00000363708.4:p.Arg310Ile
ENST00000638587.1:c.860G>T ENSP00000491062.1:p.Arg287Ile
ENST00000374574.2:c.929G>T ENSP00000363702.2:p.Arg310Ile
ENST00000374580.8:c.929G>T ENSP00000363708.4:p.Arg310Ile
NM_001204.6:c.929G>T , LRG_712t1:c.929G>T NP_001195.2:p.Arg310Ile
XM_011511687.1:c.929G>T XP_011509989.1:p.Arg310Ile
XM_011511688.1:c.929G>T XP_011509990.1:p.Arg310Ile
NM_001204.7:c.929G>T MANE Select NP_001195.2:p.Arg310Ile
Search 100 bp 5'
Search 100 bp 3'