Canonical Allele Identifier: CA350344408
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552719G>A , CM000664.2:g.202552719G>A GRCh38
NC_000002.11:g.203417442G>A , CM000664.1:g.203417442G>A GRCh37
NC_000002.10:g.203125687G>A NCBI36
NG_009363.1:g.181393G>A , LRG_712:g.181393G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1417G>A MANE Select ENSP00000363708.4:p.Val473Met
ENST00000638587.1:c.1348G>A ENSP00000491062.1:p.Val450Met
ENST00000374574.2:c.1417G>A ENSP00000363702.2:p.Val473Met
ENST00000374580.8:c.1417G>A ENSP00000363708.4:p.Val473Met
NM_001204.6:c.1417G>A , LRG_712t1:c.1417G>A NP_001195.2:p.Val473Met
XM_011511687.1:c.1417G>A XP_011509989.1:p.Val473Met
XM_011511688.1:c.1417G>A XP_011509990.1:p.Val473Met
NM_001204.7:c.1417G>A MANE Select NP_001195.2:p.Val473Met