Canonical Allele Identifier: CA350346524
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 895484
ClinVar RCV Id: RCV001137606
dbSNP Id: rs1688551157

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555500C>T , CM000664.2:g.202555500C>T GRCh38
NC_000002.11:g.203420223C>T , CM000664.1:g.203420223C>T GRCh37
NC_000002.10:g.203128468C>T NCBI36
NG_009363.1:g.184174C>T , LRG_712:g.184174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1835C>T MANE Select ENSP00000363708.4:p.Thr612Ile
ENST00000638587.1:c.1766C>T ENSP00000491062.1:n.1766C>T
ENST00000374574.2:c.1586+2612C>T ENSP00000363702.2:n.1586+2612C>T
ENST00000374580.8:c.1835C>T ENSP00000363708.4:p.Thr612Ile
NM_001204.6:c.1835C>T , LRG_712t1:c.1835C>T NP_001195.2:p.Thr612Ile
XM_011511687.1:c.1835C>T XP_011509989.1:p.Thr612Ile
XM_011511688.1:c.1586+2612C>T XP_011509990.1:n.1586+2612C>T
NM_001204.7:c.1835C>T MANE Select NP_001195.2:p.Thr612Ile