Canonical Allele Identifier: CA658761124
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556073_202556074insTG , CM000664.2:g.202556073_202556074insTG GRCh38
NC_000002.11:g.203420796_203420797insTG , CM000664.1:g.203420796_203420797insTG GRCh37
NC_000002.10:g.203129041_203129042insTG NCBI36
NG_009363.1:g.184747_184748insTG , LRG_712:g.184747_184748insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2408_2409insTG MANE Select ENSP00000363708.4:p.Val804GlufsTer4
ENST00000638587.1:c.2339_2340insTG ENSP00000491062.1:n.2339_2340insTG
ENST00000374574.2:c.1586+3185_1586+3186insTG ENSP00000363702.2:n.1586+3185_1586+3186insTG
ENST00000374580.8:c.2408_2409insTG ENSP00000363708.4:p.Val804GlufsTer4
NM_001204.6:c.2408_2409insTG , LRG_712t1:c.2408_2409insTG NP_001195.2:p.Val804GlufsTer4
XM_011511687.1:c.2408_2409insTG XP_011509989.1:p.Val804GlufsTer4
XM_011511688.1:c.1586+3185_1586+3186insTG XP_011509990.1:n.1586+3185_1586+3186insTG
NM_001204.7:c.2408_2409insTG MANE Select NP_001195.2:p.Val804GlufsTer4