Canonical Allele Identifier: CA350348591
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556111G>A , CM000664.2:g.202556111G>A GRCh38
NC_000002.11:g.203420834G>A , CM000664.1:g.203420834G>A GRCh37
NC_000002.10:g.203129079G>A NCBI36
NG_009363.1:g.184785G>A , LRG_712:g.184785G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2446G>A MANE Select ENSP00000363708.4:p.Val816Ile
ENST00000638587.1:c.2377G>A ENSP00000491062.1:n.2377G>A
ENST00000374574.2:c.1586+3223G>A ENSP00000363702.2:n.1586+3223G>A
ENST00000374580.8:c.2446G>A ENSP00000363708.4:p.Val816Ile
NM_001204.6:c.2446G>A , LRG_712t1:c.2446G>A NP_001195.2:p.Val816Ile
XM_011511687.1:c.2446G>A XP_011509989.1:p.Val816Ile
XM_011511688.1:c.1586+3223G>A XP_011509990.1:n.1586+3223G>A
NM_001204.7:c.2446G>A MANE Select NP_001195.2:p.Val816Ile